PanelApp

Activity

Date Panel Item Activity
3000 actions
API_SignedOffVersion_L4 v0.0 Curator Test Added Panel API_SignedOffVersion_L4
Set panel types to: GMS Rare Disease
PanelViaWebServices4 v0.2 AAAS Curator Test Transcript for gene AAAS was changed from None to NM_000251.2
PanelViaWebServices1 v0.6 ISCA-37423-Gain1 Curator Test Region: ISCA-37423-Gain1 was added
Region: ISCA-37423-Gain1 was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory
missense tags were added to Region: ISCA-37423-Gain1.
Mode of inheritance for Region: ISCA-37423-Gain1 was set to MITOCHONDRIAL
Publications for Region: ISCA-37423-Gain1 were set to PMD234
Phenotypes for Region: ISCA-37423-Gain1 were set to Sampepheno
Penetrance for Region: ISCA-37423-Gain1 were set to Complete
Review for Region: ISCA-37423-Gain1 was set to GREEN
Region: ISCA-37423-Gain1 was marked as current diagnostic
Added comment: Commentetst
Sources: Emory Genetics Laboratory
PanelViaWebServices1 v0.5 ISCA-37415-Loss1 Curator Test Region: ISCA-37415-Loss1 was added
Region: ISCA-37415-Loss1 was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory
missense tags were added to Region: ISCA-37415-Loss1.
Mode of inheritance for Region: ISCA-37415-Loss1 was set to MITOCHONDRIAL
Publications for Region: ISCA-37415-Loss1 were set to PMD234
Phenotypes for Region: ISCA-37415-Loss1 were set to Sampepheno
Penetrance for Region: ISCA-37415-Loss1 were set to Complete
Review for Region: ISCA-37415-Loss1 was set to GREEN
Region: ISCA-37415-Loss1 was marked as current diagnostic
Added comment: Commentetst
Sources: Emory Genetics Laboratory
PanelViaWebServices1 v0.4 HTT_CAG Curator Test STR: HTT_CAG was added
STR: HTT_CAG was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory
missense tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MITOCHONDRIAL
Publications for STR: HTT_CAG were set to PMD234
Phenotypes for STR: HTT_CAG were set to Sampepheno
Review for STR: HTT_CAG was set to GREEN
STR: HTT_CAG was marked as clinically relevant
STR: HTT_CAG was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
PanelViaWebServices1 v0.3 CNBP_CCTG Curator Test STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory
missense tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MITOCHONDRIAL
Publications for STR: CNBP_CCTG were set to PMD234
Phenotypes for STR: CNBP_CCTG were set to Sampepheno
Review for STR: CNBP_CCTG was set to GREEN
STR: CNBP_CCTG was marked as clinically relevant
STR: CNBP_CCTG was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
PanelViaWebServices4 v0.1 AAAS Curator Test gene: AAAS was added
gene: AAAS was added to PanelViaWebServices4. Sources: UKGTN
watchlist tags were added to gene: AAAS.
Mode of inheritance for gene: AAAS was set to MITOCHONDRIAL
Publications for gene: AAAS were set to 1234
Phenotypes for gene: AAAS were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly
Penetrance for gene: AAAS were set to Complete
Review for gene: AAAS was set to GREEN
gene: AAAS was marked as current diagnostic
Added comment: Gene Comment by Curator
Sources: UKGTN
PanelViaWebServices1 v0.2 RSG1 Curator Test gene: RSG1 was added
gene: RSG1 was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory
watchlist tags were added to gene: RSG1.
Mode of inheritance for gene: RSG1 was set to MITOCHONDRIAL
Publications for gene: RSG1 were set to 1234
Phenotypes for gene: RSG1 were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly
Penetrance for gene: RSG1 were set to Complete
Review for gene: RSG1 was set to GREEN
gene: RSG1 was marked as current diagnostic
Added comment: Gene Comment by Curator
Sources: Emory Genetics Laboratory
PanelViaWebServices1 v0.1 HGSNAT Curator Test gene: HGSNAT was added
gene: HGSNAT was added to PanelViaWebServices1. Sources: UKGTN
watchlist tags were added to gene: HGSNAT.
Mode of inheritance for gene: HGSNAT was set to MITOCHONDRIAL
Publications for gene: HGSNAT were set to 1234
Phenotypes for gene: HGSNAT were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly
Penetrance for gene: HGSNAT were set to Complete
Review for gene: HGSNAT was set to GREEN
gene: HGSNAT was marked as current diagnostic
Added comment: Gene Comment by Curator
Sources: UKGTN
PanelViaWebServices4 v0.0 Curator Test Added Panel PanelViaWebServices4
Set panel types to: Cancer Germline 100K
PanelViaWebServices1 v0.0 Curator Test Added Panel PanelViaWebServices1
Set panel types to: Cancer Germline 100K
Bleeding and platelet disorders v1.25 Eleanor Williams Panel version 1.24 has been signed off on 2021-08-18
Bleeding and platelet disorders v1.24 ABCG5 Eleanor Williams Classified gene: ABCG5 as Amber List (moderate evidence)
Bleeding and platelet disorders v1.24 ABCG5 Eleanor Williams Gene: abcg5 has been classified as Amber List (Moderate Evidence).
Amyloidosis v1.14 Eleanor Williams Panel version 1.13 has been signed off on 2021-08-18
Amyloidosis v1.13 TTR Eleanor Williams Classified gene: TTR as Amber List (moderate evidence)
Amyloidosis v1.13 TTR Eleanor Williams Gene: ttr has been classified as Amber List (Moderate Evidence).
Amyloidosis v1.12 Eleanor Williams Panel signed off version 1.10 has been removed
Amyloidosis v1.11 Eleanor Williams Panel version 1.10 has been signed off on 2021-08-12
Amyloidosis v1.10 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease
Common craniosynostosis syndromes v1.15 Eleanor Williams Panel version 1.14 has been signed off on 2021-08-12
Common craniosynostosis syndromes v1.14 TWIST1 Eleanor Williams Classified gene: TWIST1 as Amber List (moderate evidence)
Common craniosynostosis syndromes v1.14 TWIST1 Eleanor Williams Gene: twist1 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.19 Ivone Leong List of related panels changed from R39 to R39; Albinism or congenital nystagmus
Panel version 1.18 has been signed off on 2021-08-04
Breast cancer pertinent cancer susceptibility v1.2 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.1 has been signed off on 2021-07-26
Ovarian cancer pertinent cancer susceptibility v1.6 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.5 has been signed off on 2021-07-26
Brain cancer pertinent cancer susceptibility v1.1 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.0 has been signed off on 2021-07-26
Breast cancer pertinent cancer susceptibility v1.1 PTEN Catherine Snow Classified gene: PTEN as Red List (low evidence)
Breast cancer pertinent cancer susceptibility v1.1 PTEN Catherine Snow Added comment: Comment on list classification: Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
Breast cancer pertinent cancer susceptibility v1.1 PTEN Catherine Snow Gene: pten has been classified as Red List (Low Evidence).
Ovarian cancer pertinent cancer susceptibility v1.5 BRIP1 Catherine Snow Classified gene: BRIP1 as Green List (high evidence)
Ovarian cancer pertinent cancer susceptibility v1.5 BRIP1 Catherine Snow Added comment: Comment on list classification: Rating Green following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
Ovarian cancer pertinent cancer susceptibility v1.5 BRIP1 Catherine Snow Gene: brip1 has been classified as Green List (High Evidence).
Ovarian cancer pertinent cancer susceptibility v1.4 BRIP1 Catherine Snow gene: BRIP1 was added
gene: BRIP1 was added to Ovarian cancer pertinent cancer susceptibility. Sources: Expert list
Mode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ovarian cancer pertinent cancer susceptibility v1.3 PMS2 Catherine Snow Classified gene: PMS2 as Red List (low evidence)
Ovarian cancer pertinent cancer susceptibility v1.3 PMS2 Catherine Snow Added comment: Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
Ovarian cancer pertinent cancer susceptibility v1.3 PMS2 Catherine Snow Gene: pms2 has been classified as Red List (Low Evidence).
Ovarian cancer pertinent cancer susceptibility v1.2 MSH6 Catherine Snow Deleted their comment
Ovarian cancer pertinent cancer susceptibility v1.2 MSH6 Catherine Snow Classified gene: MSH6 as Green List (high evidence)
Ovarian cancer pertinent cancer susceptibility v1.2 MSH6 Catherine Snow Gene: msh6 has been classified as Green List (High Evidence).
Ovarian cancer pertinent cancer susceptibility v1.1 MSH6 Catherine Snow Classified gene: MSH6 as Red List (low evidence)
Ovarian cancer pertinent cancer susceptibility v1.1 MSH6 Catherine Snow Added comment: Comment on list classification: Rating Red by Clare Turnball (ICR) following review of cancer predisposition panels for GMS phase 2
Ovarian cancer pertinent cancer susceptibility v1.1 MSH6 Catherine Snow Gene: msh6 has been classified as Red List (Low Evidence).
Hereditary neuropathy NOT PMP22 copy number v1.26 Catherine Snow List of related panels changed from R78 to Hereditary neuropathy or pain disorder – NOT PMP22 copy number; R78
White matter disorders - adult onset v1.8 Catherine Snow List of related panels changed from R62 to Adult onset leukodystrophy; R62
Hereditary spastic paraplegia - adult onset v1.17 Catherine Snow List of related panels changed from R60 to Adult onset hereditary spastic paraplegia; R60
Neurodegenerative disorders - adult onset v2.43 Catherine Snow List of related panels changed from R58 to Adult onset neurodegenerative disorder; R58
Childhood onset dystonia or chorea or related movement disorder v1.84 Catherine Snow List of related panels changed from R57 to Childhood onset dystonia; chorea or related movement disorder; R57
Adult onset movement disorder v1.71 Catherine Snow List of related panels changed from R56 to Adult onset dystonia; chorea or related movement disorder; R56
Retinal disorders v2.173 Catherine Snow List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35 to Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy; Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35
Cataracts v2.67 Catherine Snow List of related panels changed from R31 to Bilateral congenital or childhood onset cataracts; R31
Fetal anomalies v1.638 Eleanor Williams Panel version 1.637 has been signed off on 2021-06-30
Fetal anomalies v1.637 ACE Eleanor Williams Classified gene: ACE as Amber List (moderate evidence)
Fetal anomalies v1.637 ACE Eleanor Williams Added comment: Comment on list classification: demoting to amber and re signing off the panel again
Fetal anomalies v1.637 ACE Eleanor Williams Gene: ace has been classified as Amber List (Moderate Evidence).
Hearing loss v2.159 Eleanor Williams Panel version 2.158 has been signed off on 2021-06-29
Hearing loss v2.158 COCH Eleanor Williams Classified gene: COCH as Amber List (moderate evidence)
Hearing loss v2.158 COCH Eleanor Williams Added comment: Comment on list classification: changing to amber as a test
Hearing loss v2.158 COCH Eleanor Williams Gene: coch has been classified as Amber List (Moderate Evidence).
CuratorFeaturePanel6_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel6_L4
Set panel types to: Cancer Germline 100K
PanelForReviewer v0.0 Curator Test Added Panel PanelForReviewer
Set panel types to: Cancer Germline 100K
CuratorFeaturePanel5_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel5_L4
Set panel types to: Cancer Germline 100K
PanelForPublicUser v0.3 ISCA-37415-Loss1 Curator Test Region: ISCA-37415-Loss1 was added
Region: ISCA-37415-Loss1 was added to PanelForPublicUser. Sources: Emory Genetics Laboratory
missense tags were added to Region: ISCA-37415-Loss1.
Mode of inheritance for Region: ISCA-37415-Loss1 was set to MITOCHONDRIAL
Publications for Region: ISCA-37415-Loss1 were set to PMD234
Phenotypes for Region: ISCA-37415-Loss1 were set to Sampepheno
Penetrance for Region: ISCA-37415-Loss1 were set to Complete
Review for Region: ISCA-37415-Loss1 was set to GREEN
Region: ISCA-37415-Loss1 was marked as current diagnostic
Added comment: Commentetst
Sources: Emory Genetics Laboratory
CuratorFeaturePanel4_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel4_L4
Set panel types to: Cancer Germline 100K
PanelForPublicUser v0.2 CNBP_CCTG Curator Test STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to PanelForPublicUser. Sources: Emory Genetics Laboratory
missense tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MITOCHONDRIAL
Publications for STR: CNBP_CCTG were set to PMD234
Phenotypes for STR: CNBP_CCTG were set to Sampepheno
Review for STR: CNBP_CCTG was set to GREEN
STR: CNBP_CCTG was marked as clinically relevant
STR: CNBP_CCTG was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
CuratorFeaturePanel3_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel3_L4
Set panel types to: Rare Disease 100K
PanelForEditSTR v0.1 POP1_CAG Curator Test STR: POP1_CAG was added
STR: POP1_CAG was added to PanelForEditSTR. Sources: Expert list
missense tags were added to STR: POP1_CAG.
Mode of inheritance for STR: POP1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: POP1_CAG were set to PMD234
Phenotypes for STR: POP1_CAG were set to Sampepheno
Review for STR: POP1_CAG was set to GREEN
STR: POP1_CAG was marked as clinically relevant
STR: POP1_CAG was marked as current diagnostic
Added comment: STR added by Curator but not added gene
Sources: Expert list
PanelForPublicUser v0.1 HGSNAT Curator Test gene: HGSNAT was added
gene: HGSNAT was added to PanelForPublicUser. Sources: UKGTN
watchlist tags were added to gene: HGSNAT.
Mode of inheritance for gene: HGSNAT was set to MITOCHONDRIAL
Publications for gene: HGSNAT were set to 1234
Phenotypes for gene: HGSNAT were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly
Penetrance for gene: HGSNAT were set to Complete
Review for gene: HGSNAT was set to GREEN
gene: HGSNAT was marked as current diagnostic
Added comment: Gene Comment by Curator
Sources: UKGTN
CuratorFeaturePanel2_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel2_L4
Set panel types to: GMS Rare Disease Virtual
PanelForEditSTR v0.0 Curator Test Added Panel PanelForEditSTR
Set panel types to: Cancer Germline 100K
PanelForPublicUser v0.0 Curator Test Added Panel PanelForPublicUser
Set panel types to: Cancer Germline 100K
Aniridia v2.14 FOXC1 Eleanor Williams Mode of inheritance for gene: FOXC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Aniridia v2.13 FOXC1 Eleanor Williams Phenotypes for gene: FOXC1 were changed from Aniridia, MONDO:0019172 to Aniridia, MONDO:0019172; aniridia
Aniridia v2.12 FOXC1 Eleanor Williams Tag watchlist tag was added to gene: FOXC1.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag new-gene-name tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag new-gene-name was removed from gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag new-gene-name tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag Q2_21_rating tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Classified gene: MT-ND6 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Added comment: Comment on list classification: TEST
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Gene: mt-nd6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.103 DNA2 Arina Puzriakova Publications for gene: DNA2 were set to 24389050
RPanel_SignedOffVersion_L4 v0.3 Curator Test Panel version 0.2 has been signed off on 2021-02-17
RPanel_SignedOffVersion_L4 v0.2 Curator Test Panel version 0.1 has been signed off on 2021-02-16
RPanel_SignedOffVersion_L4 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-02-15
RPanel_SignedOffVersion_L4 v0.0 Curator Test Added Panel RPanel_SignedOffVersion_L4
Set panel types to: Cancer Germline 100K
PPanel_SignedOffVersion_L4 v0.3 Curator Test Panel version 0.2 has been signed off on 2021-02-17
PPanel_SignedOffVersion_L4 v0.2 Curator Test Panel version 0.1 has been signed off on 2021-02-16
PPanel_SignedOffVersion_L4 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-02-15
PPanel_SignedOffVersion_L4 v0.0 Curator Test Added Panel PPanel_SignedOffVersion_L4
Set panel types to: Cancer Germline 100K
Adult onset movement disorder v1.70 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.69 Curator Test Panel version 1.39 has been signed off on 2021-04-20
Adult onset movement disorder v1.68 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.67 Curator Test Panel version 1.39 has been signed off on 2021-04-20
Adult onset movement disorder v1.66 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.65 Curator Test Panel version 1.39 has been signed off on 2021-04-13
TestPanelApril2021 v0.0 Curator Test Added Panel TestPanelApril2021
Set panel types to: Cancer Germline 100K
Adult onset movement disorder v1.64 Curator Test Panel signed off version 1.39 has been removed
Amelogenesis imperfecta v2.9 ACP4 Eleanor Williams Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta
Publications for gene: ACP4 were updated from 28513613; 27843125 to 28513613; 27843125
Transcript for gene ACP4 was changed from None to ENST00000354571.5
TEST_OCT_2020_1 v1.0 Eleanor Williams promoted panel to version 1.0
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Marked gene: PRSS1 as ready
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Added comment: Comment when marking as ready: its ready
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Gene: prss1 has been classified as Amber List (Moderate Evidence).
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Classified gene: PRSS1 as Amber List (moderate evidence)
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Gene: prss1 has been classified as Amber List (Moderate Evidence).
TEST_OCT_2020_1 v0.18 ACP4 Eleanor Williams gene: ACP4 was added
gene: ACP4 was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for gene: ACP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.17 BRCA1 Reviewer Test gene: BRCA1 was added
gene: BRCA1 was added to TEST_OCT_2020_1. Sources: Expert Review
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.17 ABAT Reviewer Test commented on gene: ABAT
TEST_OCT_2020_1 v0.17 ABAT Eleanor Williams Source UKGTN was added to ABAT.
TEST_OCT_2020_1 v0.16 ABAT Eleanor Williams Classified gene: ABAT as Amber List (moderate evidence)
TEST_OCT_2020_1 v0.16 ABAT Eleanor Williams Gene: abat has been classified as Amber List (Moderate Evidence).
TEST_OCT_2020_1 v0.15 ABAT Eleanor Williams commented on gene: ABAT: add another comment
TEST_OCT_2020_1 v0.15 ABAT Eleanor Williams Tag watchlist tag was added to gene: ABAT.
TEST_OCT_2020_1 v0.15 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss
TEST_OCT_2020_1 v0.15 ISCA-37441-Loss Eleanor Williams Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.14 PRSS1 Eleanor Williams changed review comment from: add review; to: add review and change it
TEST_OCT_2020_1 v0.14 PRSS1_CAG Eleanor Williams commented on STR: PRSS1_CAG
TEST_OCT_2020_1 v0.14 PRSS1 Eleanor Williams commented on gene: PRSS1
TEST_OCT_2020_1 v0.14 PRSS1_CAG Eleanor Williams Classified STR: PRSS1_CAG as No list
TEST_OCT_2020_1 v0.14 PRSS1_CAG Eleanor Williams Str: prss1_cag has been removed from the panel.
TEST_OCT_2020_1 v0.13 PRSS1_CAG Eleanor Williams STR: PRSS1_CAG was added
STR: PRSS1_CAG was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for STR: PRSS1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.12 PRSS1 Eleanor Williams Classified gene: PRSS1 as No list
TEST_OCT_2020_1 v0.12 PRSS1 Eleanor Williams Gene: prss1 has been removed from the panel.
TEST_OCT_2020_1 v0.11 PRSS1 Eleanor Williams Phenotypes for gene: PRSS1 were changed from to Add a phenotype
TEST_OCT_2020_1 v0.10 PRSS1 Eleanor Williams gene: PRSS1 was added
gene: PRSS1 was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for gene: PRSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v1.63 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Panel544_545 v0.12 # Curator Test STR: # was added
STR: # was added to Panel544_545. Sources: Emory Genetics Laboratory
missense tags were added to STR: #.
Mode of inheritance for STR: # was set to MITOCHONDRIAL
Publications for STR: # were set to PMD234
Phenotypes for STR: # were set to Sampepheno
Review for STR: # was set to GREEN
STR: # was marked as clinically relevant
STR: # was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
Panel544_545 v0.11 Curator Test removed STR:@ from the panel
Panel544_545 v0.10 Curator Test removed STR:# from the panel
Panel544_545 v0.9 @ Curator Test STR: @ was added
STR: @ was added to Panel544_545. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for STR: @ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Penetrance for STR: @ were set to unknown
Panel544_545 v0.8 # Curator Test STR: # was added
STR: # was added to Panel544_545. Sources: UKGTN
Mode of inheritance for STR: # was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Panel544_545 v0.7 Curator Test removed STR:# from the panel
Adult onset movement disorder v1.62 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.61 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.60 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.59 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.58 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.57 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.56 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.55 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.54 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.53 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.52 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.51 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Panel544_545 v0.6 # Curator Test Region: # was added
Region: # was added to Panel544_545. Sources: Emory Genetics Laboratory
missense tags were added to Region: #.
Mode of inheritance for Region: # was set to MITOCHONDRIAL
Publications for Region: # were set to PMD234
Phenotypes for Region: # were set to Sampepheno
Penetrance for Region: # were set to Complete
Review for Region: # was set to GREEN
Region: # was marked as current diagnostic
Added comment: Commentetst
Sources: Emory Genetics Laboratory
Panel544_545 v0.5 # Curator Test STR: # was added
STR: # was added to Panel544_545. Sources: Emory Genetics Laboratory
missense tags were added to STR: #.
Mode of inheritance for STR: # was set to MITOCHONDRIAL
Publications for STR: # were set to PMD234
Phenotypes for STR: # were set to Sampepheno
Review for STR: # was set to GREEN
STR: # was marked as clinically relevant
STR: # was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
Adult onset movement disorder v1.50 Curator Test Panel signed off version 1.39 has been removed
TestPanel v1.75 Eleanor Williams Panel status changed from internal to public
Adult onset movement disorder v1.49 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.48 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.47 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.46 Curator Test Panel version 1.3 has been signed off on 2020-04-15
Adult onset movement disorder v1.45 Curator Test Panel signed off version 1.3 has been removed
Adult onset movement disorder v1.44 Curator Test Panel version 1.3 has been signed off on 2020-04-15
TEST_OCT_2020_1 v0.9 ISCA-37390-Loss Reviewer Test Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 15635506
Phenotypes for Region: ISCA-37390-Loss were set to something
Review for Region: ISCA-37390-Loss was set to GREEN
Region: ISCA-37390-Loss was marked as current diagnostic
Added comment: comment
Sources: Other
TEST_OCT_2020_1 v0.9 AGA Eleanor Williams Classified gene: AGA as No list
TEST_OCT_2020_1 v0.9 AGA Eleanor Williams Gene: aga has been removed from the panel.
TEST_OCT_2020_1 v0.8 Eleanor Williams Panel status changed from internal to public
Adult onset movement disorder v1.43 Curator Test Panel signed off version 1.3 has been removed
Adult onset movement disorder v1.42 Curator Test Panel version 1.3 has been signed off on 2020-04-15
Intellectual disability v3.991 ZNF335 Catherine Snow Source Expert Review Red was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZNF148 Catherine Snow Source Expert Review Red was added to ZNF148.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZFP57 Catherine Snow Source Expert Review Red was added to ZFP57.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZC3H14 Catherine Snow Source Expert Review Red was added to ZC3H14.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 XPA Catherine Snow Source Expert Review Red was added to XPA.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 USP27X Catherine Snow Source Expert Review Red was added to USP27X.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 UPB1 Catherine Snow Source Expert Review Red was added to UPB1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TWIST2 Catherine Snow Source Expert Review Red was added to TWIST2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TUBGCP4 Catherine Snow Source Expert Review Red was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TRMT1 Catherine Snow Source Expert Review Red was added to TRMT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TRAPPC11 Catherine Snow Source Expert Review Red was added to TRAPPC11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TMEM231 Catherine Snow Source Expert Review Red was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 THRB Catherine Snow Source Expert Review Red was added to THRB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TERT Catherine Snow Source Expert Review Red was added to TERT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TBX1 Catherine Snow Source Expert Review Red was added to TBX1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 STT3A Catherine Snow Source Expert Review Red was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 STRADA Catherine Snow Source Expert Review Red was added to STRADA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SRGAP3 Catherine Snow Source Expert Review Red was added to SRGAP3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 SNORD118 Catherine Snow Source Expert Review Red was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 SMARCD2 Catherine Snow Source Expert Review Red was added to SMARCD2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 SET Catherine Snow Source Expert Review Red was added to SET.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 RTN4IP1 Catherine Snow Source Expert Review Red was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PSMB8 Catherine Snow Source Expert Review Red was added to PSMB8.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 PNPO Catherine Snow Source Expert Review Red was added to PNPO.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 NUP62 Catherine Snow Source Expert Review Red was added to NUP62.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 NAGS Catherine Snow Source Expert Review Red was added to NAGS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 LRP5 Catherine Snow Source Expert Review Red was added to LRP5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 IL1RAPL2 Catherine Snow Source Expert Review Red was added to IL1RAPL2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 FAAH2 Catherine Snow Source Expert Review Red was added to FAAH2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 FA2H Catherine Snow Source Expert Review Red was added to FA2H.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ERMARD Catherine Snow Source Expert Review Red was added to ERMARD.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ERLIN2 Catherine Snow Source Expert Review Red was added to ERLIN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EPB41L1 Catherine Snow Source Expert Review Red was added to EPB41L1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 EEF1B2 Catherine Snow Source Expert Review Red was added to EEF1B2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DPM3 Catherine Snow Source Expert Review Red was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DOCK6 Catherine Snow Source Expert Review Red was added to DOCK6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DLG4 Catherine Snow Source Expert Review Red was added to DLG4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DLG2 Catherine Snow Source Expert Review Red was added to DLG2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DLG1 Catherine Snow Source Expert Review Red was added to DLG1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DLAT Catherine Snow Source Expert Review Red was added to DLAT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DIP2B Catherine Snow Source Expert Review Red was added to DIP2B.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DENND5A Catherine Snow Source Expert Review Red was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DDX53 Catherine Snow Source Expert Review Red was added to DDX53.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 CYP7B1 Catherine Snow Source Expert Review Red was added to CYP7B1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 CYP27A1 Catherine Snow Source Expert Review Red was added to CYP27A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 CRBN Catherine Snow Source Expert Review Red was added to CRBN.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ASH1L Catherine Snow Source Expert Review Red was added to ASH1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ARL14EP Catherine Snow Source Expert Review Red was added to ARL14EP.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ALX4 Catherine Snow Source Expert Review Red was added to ALX4.
Mode of inheritance for gene ALX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 AKT1 Catherine Snow Source Expert Review Red was added to AKT1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ACVR1 Catherine Snow Source Expert Review Red was added to ACVR1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZSWIM6 Catherine Snow Source Expert Review Red was added to ZSWIM6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ZBTB18 Catherine Snow Source Expert Review Red was added to ZBTB18.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 WDR81 Catherine Snow Source Expert Review Red was added to WDR81.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 VAMP1 Catherine Snow Source Expert Review Red was added to VAMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 UNC80 Catherine Snow Source Expert Review Red was added to UNC80.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 UBTF Catherine Snow Source Expert Review Red was added to UBTF.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 UBA5 Catherine Snow Source Expert Review Red was added to UBA5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TTC37 Catherine Snow Source Expert Review Red was added to TTC37.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TRMT10A Catherine Snow Source Expert Review Red was added to TRMT10A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TRIT1 Catherine Snow Source Expert Review Red was added to TRIT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TMTC3 Catherine Snow Source Expert Review Red was added to TMTC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TMEM240 Catherine Snow Source Expert Review Red was added to TMEM240.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 THOC6 Catherine Snow Source Expert Review Red was added to THOC6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 THOC2 Catherine Snow Source Expert Review Red was added to THOC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TECPR2 Catherine Snow Source Expert Review Red was added to TECPR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TBCK Catherine Snow Source Expert Review Red was added to TBCK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TAF1 Catherine Snow Source Expert Review Red was added to TAF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SZT2 Catherine Snow Source Expert Review Red was added to SZT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 STAG1 Catherine Snow Source Expert Review Red was added to STAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ST3GAL5 Catherine Snow Source Expert Review Red was added to ST3GAL5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SPTBN2 Catherine Snow Source Expert Review Red was added to SPTBN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SPART Catherine Snow Source Expert Review Red was added to SPART.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SMC3 Catherine Snow Source Expert Review Red was added to SMC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SMAD4 Catherine Snow Source Expert Review Red was added to SMAD4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SLC6A9 Catherine Snow Source Expert Review Red was added to SLC6A9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SLC33A1 Catherine Snow Source Expert Review Red was added to SLC33A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SIN3A Catherine Snow Source Expert Review Red was added to SIN3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 RERE Catherine Snow Source Expert Review Red was added to RERE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 RAC1 Catherine Snow Source Expert Review Red was added to RAC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PYCR1 Catherine Snow Source Expert Review Red was added to PYCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PUF60 Catherine Snow Source Expert Review Red was added to PUF60.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PSMD12 Catherine Snow Source Expert Review Red was added to PSMD12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PRUNE1 Catherine Snow Source Expert Review Red was added to PRUNE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PRKD1 Catherine Snow Source Expert Review Red was added to PRKD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PPP1CB Catherine Snow Source Expert Review Red was added to PPP1CB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PNPLA6 Catherine Snow Source Expert Review Red was added to PNPLA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PLPBP Catherine Snow Source Expert Review Red was added to PLPBP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PLAA Catherine Snow Source Expert Review Red was added to PLAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PGAP1 Catherine Snow Source Expert Review Red was added to PGAP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PARN Catherine Snow Source Expert Review Red was added to PARN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 OPA3 Catherine Snow Source Expert Review Red was added to OPA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 NTRK1 Catherine Snow Source Expert Review Red was added to NTRK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 KIAA0586 Catherine Snow Source Expert Review Red was added to KIAA0586.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 KCNK9 Catherine Snow Source Expert Review Red was added to KCNK9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 KCNJ6 Catherine Snow Source Expert Review Red was added to KCNJ6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ITPR1 Catherine Snow Source Expert Review Red was added to ITPR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 GLIS3 Catherine Snow Source Expert Review Red was added to GLIS3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 FGF12 Catherine Snow Source Expert Review Red was added to FGF12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EXTL3 Catherine Snow Source Expert Review Red was added to EXTL3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EMX2 Catherine Snow Source Expert Review Red was added to EMX2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EML1 Catherine Snow Source Expert Review Red was added to EML1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ELP2 Catherine Snow Source Expert Review Red was added to ELP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DNAJC19 Catherine Snow Source Expert Review Red was added to DNAJC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DHX30 Catherine Snow Source Expert Review Red was added to DHX30.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DAG1 Catherine Snow Source Expert Review Red was added to DAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 D2HGDH Catherine Snow Source Expert Review Red was added to D2HGDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 CRADD Catherine Snow Source Expert Review Red was added to CRADD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 CDK13 Catherine Snow Source Expert Review Red was added to CDK13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 BRPF1 Catherine Snow Source Expert Review Red was added to BRPF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ASXL2 Catherine Snow Source Expert Review Red was added to ASXL2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ASL Catherine Snow Source Expert Review Red was added to ASL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ARL13B Catherine Snow Source Expert Review Red was added to ARL13B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ARID2 Catherine Snow Source Expert Review Red was added to ARID2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 AP3B2 Catherine Snow Source Expert Review Red was added to AP3B2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 AP3B1 Catherine Snow Source Expert Review Red was added to AP3B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 AHI1 Catherine Snow Source Expert Review Red was added to AHI1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ADK Catherine Snow Source Expert Review Red was added to ADK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ACTL6A Catherine Snow Source Expert Review Red was added to ACTL6A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Limb disorders v2.39 FGFR1 Catherine Snow Classified gene: FGFR1 as Amber List (moderate evidence)
Limb disorders v2.39 FGFR1 Catherine Snow Gene: fgfr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.990 SBDS Sarah Leigh Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome, 260400 to Shwachman-Bodian-Diamond syndrome, OMIM:260400
Intellectual disability v3.989 MED27 Arina Puzriakova Classified gene: MED27 as Green List (high evidence)
Intellectual disability v3.989 MED27 Arina Puzriakova Gene: med27 has been classified as Green List (High Evidence).
Intellectual disability v3.989 AFF4 Eleanor Williams Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.988 MED27 Arina Puzriakova reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: 33443317; Phenotypes: Intellectual disability, Axial hypotonia, Spasticity, Dystonia, Cerebellar hypoplasia, Cataracts, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.27 SHANK3 Sarah Leigh Added comment: Comment on phenotypes: Phelan-McDermid syndrome 606232
Autism v0.27 SHANK3 Sarah Leigh Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS to Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS
Autism v0.26 CUX1 Catherine Snow Phenotypes for gene: CUX1 were changed from to autism
Autism v0.25 RIMS2 Arina Puzriakova Classified gene: RIMS2 as Amber List (moderate evidence)
Autism v0.25 RIMS2 Arina Puzriakova Gene: rims2 has been classified as Amber List (Moderate Evidence).
Autism v0.25 TRIP12 Eleanor Williams Classified gene: TRIP12 as Amber List (moderate evidence)
Autism v0.25 TRIP12 Eleanor Williams Gene: trip12 has been classified as Amber List (Moderate Evidence).
Autism v0.24 ARID1B Arina Puzriakova Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome; ASD, DD/NDD, EPS, ADHD, ID, EP to Autism
Autism v0.23 SHANK3 Sarah Leigh Added comment: Comment on mode of inheritance: for test
Autism v0.23 SHANK3 Sarah Leigh Mode of inheritance for gene: SHANK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Autism v0.22 ARID1B Arina Puzriakova Publications for gene: ARID1B were set to 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
Autism v0.21 SHANK3 Sarah Leigh reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.21 ARID1B Arina Puzriakova Publications for gene: ARID1B were set to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
Intellectual disability v3.988 SURF1 Sarah Leigh Classified gene: SURF1 as Amber List (moderate evidence)
Intellectual disability v3.988 SURF1 Sarah Leigh Added comment: Comment on list classification: for test
Intellectual disability v3.988 SURF1 Sarah Leigh Gene: surf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.987 SALL4 Sarah Leigh reviewed gene: SALL4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.987 SALL4 Sarah Leigh Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 to Duane-radial ray syndrome OMIM:607323; IVIC syndrome, 147750
Intellectual disability v3.986 ABCD4 Arina Puzriakova Publications for gene: ABCD4 were set to 22922874
Intellectual disability v3.986 CLP1 Eleanor Williams Mode of inheritance for gene: CLP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability v3.986 CLN8 Catherine Snow Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8) to Ceroid lipofuscinosis, neuronal, 8, 600143
Intellectual disability v3.985 CLN8 Catherine Snow Publications for gene: CLN8 were set to
Intellectual disability v3.985 SALL4 Sarah Leigh Mode of inheritance for gene: SALL4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.984 ABCD4 Arina Puzriakova Publications for gene: ABCD4 were set to
Intellectual disability v3.983 SALL4 Sarah Leigh Classified gene: SALL4 as Amber List (moderate evidence)
Intellectual disability v3.983 SALL4 Sarah Leigh Gene: sall4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.983 CRX Catherine Snow Classified gene: CRX as Amber List (moderate evidence)
Intellectual disability v3.983 CRX Catherine Snow Added comment: Comment on list classification: for ttest
Intellectual disability v3.983 CRX Catherine Snow Gene: crx has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.983 DPM1 Eleanor Williams Classified gene: DPM1 as Amber List (moderate evidence)
Intellectual disability v3.983 DPM1 Eleanor Williams Added comment: Comment on list classification: testing changing rating
Intellectual disability v3.983 DPM1 Eleanor Williams Gene: dpm1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.983 SALL4 Sarah Leigh Classified gene: SALL4 as Amber List (moderate evidence)
Intellectual disability v3.983 SALL4 Sarah Leigh Gene: sall4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.982 ABCD4 Arina Puzriakova Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type, 614857; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE; MAHCJ to Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857
Adult onset movement disorder v1.41 Curator Test Panel signed off version 1.3 has been removed
Adult onset movement disorder v1.40 Curator Test Panel version 1.3 has been signed off on 2020-04-15
Cystic renal disease v3.88 Eleanor Williams Panel version 3.87 has been signed off on 2021-04-08
Cystic kidney disease v2.27 Eleanor Williams Panel version 2.26 has been signed off on 2021-04-08
Cystic kidney disease v2.26 ZIC3 Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
Cystic kidney disease v2.26 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Cystic kidney disease v2.25 ZIC3 Eleanor Williams gene: ZIC3 was added
gene: ZIC3 was added to Cystic kidney disease. Sources: Literature
Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off versions
Added comment: Gene added to create a signed off version with different gene content.
Sources: Literature
Sarcoma susceptibility v1.75 Eleanor Williams Panel version 1.74 has been signed off on 2021-04-08
Sarcoma susceptibility v1.74 ZIC3 Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
Sarcoma susceptibility v1.74 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Sarcoma susceptibility v1.73 ZIC3 Eleanor Williams gene: ZIC3 was added
gene: ZIC3 was added to Sarcoma susceptibility. Sources: Literature
Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off versions
Added comment: Gene added to create a signed off version with different gene content.
Sources: Literature
Adult onset movement disorder v1.39 Eleanor Williams Panel version 1.38 has been signed off on 2021-04-08
Adult onset movement disorder v1.38 ZIC3 Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
Adult onset movement disorder v1.38 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Adult onset movement disorder v1.37 ZIC3 Eleanor Williams gene: ZIC3 was added
gene: ZIC3 was added to Adult onset movement disorder. Sources: Literature
Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off version
Added comment: Gene added to create a signed off version with different gene content.
Sources: Literature
Test MOI validation panel - do not edit v1.0 Eleanor Williams promoted panel to version 1.0
Test MOI validation panel - do not edit v0.91 Eleanor Williams Panel status changed from internal to public
Cystic renal disease v3.84 Eleanor Williams Panel version 3.83 has been signed off on 2021-04-06
Cystic renal disease v3.83 Eleanor Williams Panel signed off version 3.81 has been removed
Cystic renal disease v3.82 Eleanor Williams Panel version 3.81 has been signed off on 2021-03-06
Cystic kidney disease v2.24 Eleanor Williams Panel version 2.23 has been signed off on 2021-04-06
Renal ciliopathies v1.41 Eleanor Williams Panel version 1.40 has been signed off on 2021-04-06
Holoprosencephaly v2.15 Olegg Gerasimenko Panel version 2.10 has been signed off on 2021-04-01
Adult onset movement disorder v1.36 Ivone Leong Panel version 1.25 has been signed off on 2021-03-31
Adult onset movement disorder v1.35 Ivone Leong Panel version 1.20 has been signed off on 2021-03-31
Panel544_545 v0.4 AMELX Curator Test gene: AMELX was added
gene: AMELX was added to Panel544_545. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AMELX was set to MITOCHONDRIAL
Panel544_545 v0.3 Curator Test Panel version 0.2 has been signed off on 2021-03-30
Panel544_545 v0.2 Curator Test Panel version 0.1 has been signed off on 2021-03-30
Panel544_545 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-03-30
Panel544_545 v0.0 Curator Test Added Panel Panel544_545
Set panel types to: Cancer Germline 100K
Growth failure in early childhood TEST v0.2 TRIM37 Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mulibrey nanism; Mode of inheritance:
Growth failure in early childhood TEST v0.2 SRCAP Ivone Leong reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Floating Harbor; Mode of inheritance:
Growth failure in early childhood TEST v0.2 PLAG1 Ivone Leong reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 PIK3R1 Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT; Mode of inheritance:
Growth failure in early childhood TEST v0.2 PCNT Ivone Leong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOPDII; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ORC6 Ivone Leong reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ORC4 Ivone Leong reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ORC1 Ivone Leong reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 OBSL1 Ivone Leong reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
Growth failure in early childhood TEST v0.2 NBN Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen; Mode of inheritance:
Growth failure in early childhood TEST v0.2 IGF2 Ivone Leong reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 IGF1R Ivone Leong reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 15q-Del; Mode of inheritance:
Growth failure in early childhood TEST v0.2 IGF1 Ivone Leong reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: IGF1; Mode of inheritance:
Growth failure in early childhood TEST v0.2 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello; Mode of inheritance:
Growth failure in early childhood TEST v0.2 HMGA2 Ivone Leong reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CUL7 Ivone Leong reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
Growth failure in early childhood TEST v0.2 COL1A1 Ivone Leong reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CDT1 Ivone Leong reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CDKN1C Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS/BWS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CDC6 Ivone Leong reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CCDC8 Ivone Leong reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
Growth failure in early childhood TEST v0.2 BLM Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ANKRD11 Ivone Leong reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KBG; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ACAN Ivone Leong reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Growth failure in early childhood TEST v0.1 TRIM37 Ivone Leong gene: TRIM37 was added
gene: TRIM37 was added to Growth failure in early childhood TEST. Sources: Expert Review Red
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism
Growth failure in early childhood TEST v0.1 SRCAP Ivone Leong gene: SRCAP was added
gene: SRCAP was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating Harbor
Growth failure in early childhood TEST v0.1 PLAG1 Ivone Leong gene: PLAG1 was added
gene: PLAG1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: PLAG1 was set to
Phenotypes for gene: PLAG1 were set to SRS
Growth failure in early childhood TEST v0.1 PIK3R1 Ivone Leong gene: PIK3R1 was added
gene: PIK3R1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT
Growth failure in early childhood TEST v0.1 PCNT Ivone Leong gene: PCNT was added
gene: PCNT was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MOPDII
Growth failure in early childhood TEST v0.1 ORC6 Ivone Leong gene: ORC6 was added
gene: ORC6 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 ORC4 Ivone Leong gene: ORC4 was added
gene: ORC4 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 ORC1 Ivone Leong gene: ORC1 was added
gene: ORC1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 OBSL1 Ivone Leong gene: OBSL1 was added
gene: OBSL1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3M
Growth failure in early childhood TEST v0.1 NBN Ivone Leong gene: NBN was added
gene: NBN was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen
Growth failure in early childhood TEST v0.1 IGF2 Ivone Leong gene: IGF2 was added
gene: IGF2 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: IGF2 were set to SRS
Growth failure in early childhood TEST v0.1 IGF1R Ivone Leong gene: IGF1R was added
gene: IGF1R was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to 15q-Del
Growth failure in early childhood TEST v0.1 IGF1 Ivone Leong gene: IGF1 was added
gene: IGF1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to IGF1
Growth failure in early childhood TEST v0.1 HRAS Ivone Leong gene: HRAS was added
gene: HRAS was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Costello
Growth failure in early childhood TEST v0.1 HMGA2 Ivone Leong gene: HMGA2 was added
gene: HMGA2 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: HMGA2 was set to
Phenotypes for gene: HMGA2 were set to SRS
Growth failure in early childhood TEST v0.1 CUL7 Ivone Leong gene: CUL7 was added
gene: CUL7 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3M
Growth failure in early childhood TEST v0.1 COL1A1 Ivone Leong gene: COL1A1 was added
gene: COL1A1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type I, 166200
Growth failure in early childhood TEST v0.1 CDT1 Ivone Leong gene: CDT1 was added
gene: CDT1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 CDKN1C Ivone Leong gene: CDKN1C was added
gene: CDKN1C was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to SRS/BWS; Beckwith-Wiedemann syndrome, 130650
Growth failure in early childhood TEST v0.1 CDC6 Ivone Leong gene: CDC6 was added
gene: CDC6 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to ?Meier-Gorlin syndrome 5, 613805
Growth failure in early childhood TEST v0.1 CCDC8 Ivone Leong gene: CCDC8 was added
gene: CCDC8 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3M
Growth failure in early childhood TEST v0.1 BLM Ivone Leong gene: BLM was added
gene: BLM was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom
Growth failure in early childhood TEST v0.1 ANKRD11 Ivone Leong gene: ANKRD11 was added
gene: ANKRD11 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD11 were set to KBG
Growth failure in early childhood TEST v0.1 ACAN Ivone Leong gene: ACAN was added
gene: ACAN was added to Growth failure in early childhood TEST. Sources: Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
Growth failure in early childhood TEST v0.0 Ivone Leong Added Panel Growth failure in early childhood TEST
Superpanel_TEST v2.20 Ivone Leong Panel version 2.5 has been signed off on 2021-03-28
Superpanel_TEST v2.19 Ivone Leong Panel version 2.15 has been signed off on 2021-03-29
Short QT syndrome v2.13 ALG10 Ivone Leong Classified gene: ALG10 as Red List (low evidence)
Short QT syndrome v2.13 ALG10 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.13 ALG10 Ivone Leong Gene: alg10 has been classified as Red List (Low Evidence).
Short QT syndrome v2.12 ALG10 Ivone Leong Classified gene: ALG10 as Amber List (moderate evidence)
Short QT syndrome v2.12 ALG10 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.12 ALG10 Ivone Leong Gene: alg10 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v2.11 AKAP9 Ivone Leong Classified gene: AKAP9 as Red List (low evidence)
Short QT syndrome v2.11 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.11 AKAP9 Ivone Leong Gene: akap9 has been classified as Red List (Low Evidence).
Short QT syndrome v2.10 AKAP9 Ivone Leong Classified gene: AKAP9 as Amber List (moderate evidence)
Short QT syndrome v2.10 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.10 AKAP9 Ivone Leong Gene: akap9 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v2.9 ABCC9 Ivone Leong Classified gene: ABCC9 as Red List (low evidence)
Short QT syndrome v2.9 ABCC9 Ivone Leong Gene: abcc9 has been classified as Red List (Low Evidence).
Short QT syndrome v2.8 ABCC9 Ivone Leong Classified gene: ABCC9 as Amber List (moderate evidence)
Short QT syndrome v2.8 ABCC9 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.8 ABCC9 Ivone Leong Gene: abcc9 has been classified as Amber List (Moderate Evidence).
Superpanel_TEST v2.12 Ivone Leong Panel version 2.11 has been signed off on 2021-03-29
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Classified gene: KCNE1 as Red List (low evidence)
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Gene: kcne1 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Classified gene: KCNE1 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.28 KCNE3 Ivone Leong Classified gene: KCNE3 as Red List (low evidence)
Long QT syndrome v2.28 KCNE3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.28 KCNE3 Ivone Leong Gene: kcne3 has been classified as Red List (Low Evidence).
Long QT syndrome v2.27 KCNE3 Ivone Leong Classified gene: KCNE3 as Amber List (moderate evidence)
Long QT syndrome v2.27 KCNE3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.27 KCNE3 Ivone Leong Gene: kcne3 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.26 CAV3 Ivone Leong Classified gene: CAV3 as Red List (low evidence)
Long QT syndrome v2.26 CAV3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.26 CAV3 Ivone Leong Gene: cav3 has been classified as Red List (Low Evidence).
Long QT syndrome v2.25 CAV3 Ivone Leong Classified gene: CAV3 as Amber List (moderate evidence)
Long QT syndrome v2.25 CAV3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.25 CAV3 Ivone Leong Gene: cav3 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.24 AKAP9 Ivone Leong Classified gene: AKAP9 as Red List (low evidence)
Long QT syndrome v2.24 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.24 AKAP9 Ivone Leong Gene: akap9 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Classified gene: ANK2 as Red List (low evidence)
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Gene: ank2 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Classified gene: ANK2 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Gene: ank2 has been classified as Amber List (Moderate Evidence).
Superpanel_TEST v2.2 Ivone Leong Panel version 2.1 has been signed off on 2021-03-01
Long QT syndrome v2.23 AKAP9 Ivone Leong Classified gene: AKAP9 as Amber List (moderate evidence)
Long QT syndrome v2.23 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.23 AKAP9 Ivone Leong Gene: akap9 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.22 ALG10 Ivone Leong Tag deletions tag was added to gene: ALG10.
Long QT syndrome v2.22 TECRL Ivone Leong Tag treatable tag was added to gene: TECRL.
Superpanel_TEST v2.0 Ivone Leong Added Panel Superpanel_TEST
Set child panels to: Long QT syndrome; Catecholaminergic polymorphic VT; Short QT syndrome
Set panel types to: GMS Rare Disease Virtual
Sarcoma susceptibility v1.72 Ivone Leong Panel version 1.11 has been signed off on 2021-03-17
Cardiac arrhythmias - additional genes v1.12 Ivone Leong Panel version 1.9 has been signed off on 2021-03-28
Sarcoma susceptibility v1.71 Ivone Leong Panel version 1.60 has been signed off on 2021-03-28
Sarcoma susceptibility v1.70 Ivone Leong Panel version 1.4 has been signed off on 2021-03-01
Hereditary neuropathy NOT PMP22 copy number v1.25 DHX9 Arina Puzriakova Classified gene: DHX9 as Red List (low evidence)
Hereditary neuropathy NOT PMP22 copy number v1.25 DHX9 Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
Hereditary neuropathy NOT PMP22 copy number v1.25 DHX9 Arina Puzriakova Gene: dhx9 has been classified as Red List (Low Evidence).
Hereditary neuropathy NOT PMP22 copy number v1.24 DHX9 Arina Puzriakova gene: DHX9 was added
gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other
watchlist tags were added to gene: DHX9.
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy
Added comment: Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine -

Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV.
Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented.

These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time.

Baylor College of Medicine POC: Dr. Daniel Calame, [email protected]
Sources: Other
Thrombophilia v1.18 PROZ Arina Puzriakova Phenotypes for gene: PROZ were changed from 614024 Protein Z deficiency to Protein Z deficiency, OMIM:614024
Thrombophilia v1.17 PROCR Arina Puzriakova Publications for gene: PROCR were set to
Thrombophilia v1.16 PLAT Arina Puzriakova Phenotypes for gene: PLAT were changed from 612348 Thrombophilia, due to decreased release of PLAT; 612348 Thrombophilia, familial, due to decreased release of PLAT to Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348
Thrombophilia v1.15 THBD Arina Puzriakova Phenotypes for gene: THBD were changed from 614486 Thrombophilia due to thrombomodulin defect to Thrombophilia due to thrombomodulin defect, OMIM:614486
Thrombophilia v1.14 SERPIND1 Arina Puzriakova Phenotypes for gene: SERPIND1 were changed from 612356 Thrombophilia due to heparin cofactor II deficiency to Thrombophilia due to heparin cofactor II deficiency, OMIM:612356
Thrombophilia v1.13 SERPINC1 Arina Puzriakova Phenotypes for gene: SERPINC1 were changed from 613118 Thrombophilia due to antithrombin III deficiency to Thrombophilia due to antithrombin III deficiency, OMIM:613118
Thrombophilia v1.12 PROS1 Arina Puzriakova Phenotypes for gene: PROS1 were changed from 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive to Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336; Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
Adult onset movement disorder v1.34 C19orf12 Sarah Leigh Added comment: Comment on phenotypes: neurodegeneration with brain iron accumulation-4;mitochondrial membrane protein-associated neurodegeneration;Dystonia
Adult onset movement disorder v1.34 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to ?Spastic paraplegia 43, autosomal recessive OMIM:615043; hereditary spastic paraplegia 43 MONDO:0014024; Neurodegeneration with brain iron accumulation 4 OMIM:614298; neurodegeneration with brain iron accumulation 4 MONDO:0013674
Adult onset movement disorder v1.33 ATP7B Sarah Leigh Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia to Wilson disease OMIM:277900; Wilson disease MONDO:0010200
Adult onset movement disorder v1.32 ATP1A3 Sarah Leigh Phenotypes for gene: ATP1A3 were changed from CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12 to Alternating hemiplegia of childhood 2 OMIM:614820; alternating hemiplegia of childhood 2 MONDO:0013900; CAPOS syndrome OMIM:601338; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038; Dystonia-12 OMIM:128235; dystonia 12 MONDO:0007496
Adult onset movement disorder v1.31 ATP1A2 Sarah Leigh Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 to familial basilar migraine OMIM:602481; familial hemiplegic migraine type 2 OMIM:602481; migraine, familial hemiplegic, 2 MONDO:0011232; alternating hemiplegia of childhood OMIM:104290; alternating hemiplegia of childhood 1 MONDO:0007087
Hypogonadotropic hypogonadism idiopathic v1.30 KLB Ivone Leong Classified gene: KLB as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.30 KLB Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene is Green on the Hypogonadotropic hypogonadism (Version 1.29) panel and have the following review:

"Rachel Jones (GSTT)

Green List (high evidence)

Publication by Pitteloud et al:
"Genetic screening of 334 CHH patients identified seven heterozygous loss‐of‐function KLB mutations in 13 patients (4%). Most patients with KLB mutations (9/13) exhibited metabolic defects. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21."
They also included functional analysis and showed decreased activity in response to FGF21 and FGF8
KLB is an obligate coreceptor for FGF21 alongside FGFR1
Created: 10 Mar 2020, 10:55 a.m. | Last Modified: 10 Mar 2020, 10:55 a.m.
Panel Version: 1.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypogonadotrophic hypogonadism

Publications

PMID: 28754744

Created: 10 Mar 2020, 10:55 a.m.
Last Modified: 10 Mar 2020, 10:55 a.m.
Panel version: 1.27"

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism idiopathic v1.30 KLB Ivone Leong Gene: klb has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v1.30 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome to Kufor-Rakeb Syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Hypogonadotropic hypogonadism idiopathic v1.29 KLB Ivone Leong Tag Q2_21_rating tag was added to gene: KLB.
Adult onset movement disorder v1.29 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Ataxia-telangiectasia OMIM:208900 to Ataxia-telangiectasia OMIM:208900; ataxia telangiectasia MONDO:0008840
Adult onset movement disorder v1.28 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia OMIM:208900
Hypogonadotropic hypogonadism idiopathic v1.29 KLB Ivone Leong Publications for gene: KLB were set to
Adult onset movement disorder v1.27 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920; ataxia with oculomotor apraxia type 1 MONDO:0008842
Hypogonadotropic hypogonadism idiopathic v1.28 SOX10 Ivone Leong Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770
Adult onset movement disorder v1.26 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Dystonia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
Adult onset movement disorder v1.25 ANO3 Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Hypogonadotropic hypogonadism idiopathic v1.27 SOX10 Ivone Leong Classified gene: SOX10 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.27 SOX10 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel.
Hypogonadotropic hypogonadism idiopathic v1.27 SOX10 Ivone Leong Gene: sox10 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v1.24 ANO3 Sarah Leigh Added comment: Comment on publications: 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor;24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis
Adult onset movement disorder v1.24 ANO3 Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Adult onset movement disorder v1.23 ANO3 Sarah Leigh Phenotypes for gene: ANO3 were changed from familial form of cranio-cervical dystonia; Dystonia 24, 615034 to Dystonia 24 OMIM:615034; dystonia 24 MONDO:0014019
Adult onset movement disorder v1.22 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Hypogonadotropic hypogonadism idiopathic v1.26 SOX10 Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981
Hypogonadotropic hypogonadism idiopathic v1.25 SOX10 Ivone Leong Tag Q2_21_rating tag was added to gene: SOX10.
Hypogonadotropic hypogonadism idiopathic v1.25 SOX10 Ivone Leong Added comment: Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome.
Hypogonadotropic hypogonadism idiopathic v1.25 SOX10 Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559
Hypogonadotropic hypogonadism idiopathic v1.24 NSMF Ivone Leong Classified gene: NSMF as Red List (low evidence)
Hypogonadotropic hypogonadism idiopathic v1.24 NSMF Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red as per my previous comment.
Hypogonadotropic hypogonadism idiopathic v1.24 NSMF Ivone Leong Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism idiopathic v1.23 NSMF Ivone Leong Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Hypogonadotropic hypogonadism idiopathic v1.22 NSMF Ivone Leong reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 27803842; Phenotypes: ; Mode of inheritance: None
Adult onset movement disorder v1.21 ACTB Sarah Leigh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, OMIM:607371; developmental malformations-deafness-dystonia syndrome MONDO:0011823; Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh edited their review of gene: VPS33A: Added comment: This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts on this gene, which has a founder variant together with supportive functional studies.; Changed rating: GREEN
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian poputation. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh Tag Q2_21_expert_review tag was added to gene: VPS33A.
Hypogonadotropic hypogonadism idiopathic v1.22 SOX10 Ivone Leong Publications for gene: SOX10 were set to
Undiagnosed metabolic disorders v1.449 GNE Sarah Leigh Phenotypes for gene: GNE were changed from UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders); Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Inborn errors of metabolism v2.103 GNE Sarah Leigh Added comment: Comment on phenotypes: Nonaka myopathy 605820;Sialuria (Other lysosomal disorders);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Inborn errors of metabolism v2.103 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria (Other lysosomal disorders); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.70 GNE Sarah Leigh Publications for gene: GNE were set to
Undiagnosed metabolic disorders v1.448 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inborn errors of metabolism v2.102 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inborn errors of metabolism v2.102 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.101 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Lysosomal storage disorder v1.69 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v1.69 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v1.68 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Genetic epilepsy syndromes v2.307 SLC7A6OS Sarah Leigh Added comment: Comment on phenotypes: Based on the phenotypic spectrum reported in PMID 33085104, this gene may be suitable for additional panels.
Genetic epilepsy syndromes v2.307 SLC7A6OS Sarah Leigh Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12 OMIM:619191
Hypogonadotropic hypogonadism idiopathic v1.21 NSMF Ivone Leong Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Hypogonadotropic hypogonadism idiopathic v1.20 NSMF Ivone Leong Publications for gene: NSMF were set to
Genetic epilepsy syndromes v2.306 SLC7A6OS Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104).; to: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two families, shown to share common ancestors by haplotype analysis (PMID 33085104).
Rare genetic inflammatory skin disorders v1.38 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Rare genetic inflammatory skin disorders v1.37 ABCC6 Ivone Leong Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448
Rare genetic inflammatory skin disorders v1.35 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from HyperIgE syndrome; ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT to Hyper-IgE recurrent infection syndrome, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Rare genetic inflammatory skin disorders v1.33 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
Rare genetic inflammatory skin disorders v1.32 SH3PXD2B Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420
Rare genetic inflammatory skin disorders v1.31 SAMHD1 Ivone Leong Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
Rare genetic inflammatory skin disorders v1.30 RAG2 Ivone Leong Phenotypes for gene: RAG2 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.29 RAG1 Ivone Leong Phenotypes for gene: RAG1 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.28 PSENEN Ivone Leong Phenotypes for gene: PSENEN were changed from ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
Rare genetic inflammatory skin disorders v1.27 OSMR Ivone Leong Phenotypes for gene: OSMR were changed from Amyloidosis cutis; PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250
Rare genetic inflammatory skin disorders v1.26 NSDHL Ivone Leong Phenotypes for gene: NSDHL were changed from CHILD syndrome; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS to CHILD syndrome, OMIM:308050
Rare genetic inflammatory skin disorders v1.25 NOD2 Ivone Leong Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
Rare genetic inflammatory skin disorders v1.24 NLRP3 Ivone Leong Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115
Rare genetic inflammatory skin disorders v1.23 NCSTN Ivone Leong Phenotypes for gene: NCSTN were changed from ACNINV1; ACNE INVERSA, FAMILIAL, 1 to ACNE INVERSA, FAMILIAL, 1, OMIM:142690
Rare genetic inflammatory skin disorders v1.22 MVD Ivone Leong Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES; POROK7 to POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714
Rare genetic inflammatory skin disorders v1.21 KIT Ivone Leong Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
Rare genetic inflammatory skin disorders v1.20 IL36RN Ivone Leong Phenotypes for gene: IL36RN were changed from PSORS14; PSORIASIS 14, PUSTULAR; Recurrent pustular psoriasis to PSORIASIS 14, PUSTULAR, OMIM:614204
Rare genetic inflammatory skin disorders v1.19 IL1RN Ivone Leong Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP; Recurrent pustular psoriasis to OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852
Rare genetic inflammatory skin disorders v1.18 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Rare genetic inflammatory skin disorders v1.17 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
Rare genetic inflammatory skin disorders v1.16 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525
Rare genetic inflammatory skin disorders v1.15 FDPS Ivone Leong Phenotypes for gene: FDPS were changed from POROKERATOSIS 9, MULTIPLE TYPES to POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
Rare genetic inflammatory skin disorders v1.14 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 to INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481
Rare genetic inflammatory skin disorders v1.13 DOCK8 Ivone Leong Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive to Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
Rare genetic inflammatory skin disorders v1.12 CARD9 Ivone Leong Phenotypes for gene: CARD9 were changed from Deep dermatophytosis to Deep dermatophytosis, MONDO:0018335
Rare genetic inflammatory skin disorders v1.11 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris; susceptibility to psoriasis to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
Rare genetic inflammatory skin disorders v1.10 CARD11 Ivone Leong Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Multiple monogenic benign skin tumours v1.12 PMS2 Ivone Leong Phenotypes for gene: PMS2 were changed from Muir Torre to Muir-Torre syndrome, MONDO:0008018
Multiple monogenic benign skin tumours v1.11 MSH6 Ivone Leong Phenotypes for gene: MSH6 were changed from Muir-Torre syndrome to Muir-Torre syndrome, MONDO:0008018
Multiple monogenic benign skin tumours v1.10 MSH2 Ivone Leong Phenotypes for gene: MSH2 were changed from to Muir-Torre syndrome, OMIM:158320
Multiple monogenic benign skin tumours v1.9 MLH1 Ivone Leong Phenotypes for gene: MLH1 were changed from to Muir-Torre syndrome, OMIM:158320
Multiple monogenic benign skin tumours v1.8 LEMD3 Ivone Leong Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME to Osteopoikilosis with or without melorheostosis, OMIM:166700; BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
Multiple monogenic benign skin tumours v1.7 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Birt-Hogg-Dub syndrome to Birt-Hogg-Dub syndrome, OMIM:135150
Multiple monogenic benign skin tumours v1.6 CYLD Ivone Leong Phenotypes for gene: CYLD were changed from Familial cylindromatosis, Multiple familial trichoepitheliomas to Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
Epidermolysis bullosa and congenital skin fragility v1.48 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Epidermolysis bullosa and congenital skin fragility v1.47 EGFR Ivone Leong Publications for gene: EGFR were set to
Epidermolysis bullosa and congenital skin fragility v1.46 DSG3 Ivone Leong Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
Epidermolysis bullosa and congenital skin fragility v1.45 DSC3 Ivone Leong Phenotypes for gene: DSC3 were changed from to ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Epidermolysis bullosa and congenital skin fragility v1.44 DSC3 Ivone Leong Publications for gene: DSC3 were set to
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
[Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Epidermolysis bullosa and congenital skin fragility v1.42 ATP2A2 Ivone Leong Phenotypes for gene: ATP2A2 were changed from to Darier disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v1.41 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome,MONDO:0012345
Epidermolysis bullosa and congenital skin fragility v1.40 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, 609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome
Epidermolysis bullosa and congenital skin fragility v1.39 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Epidermolysis bullosa and congenital skin fragility v1.38 SPINK5 Ivone Leong Publications for gene: SPINK5 were set to
Epidermolysis bullosa and congenital skin fragility v1.37 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, OMIM:201100
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Peeling skin syndrome 5, 617115;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Phenotypes for gene: SERPINB8 were changed from Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 5, OMIM:617115
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa with Muscular Dystrophy;Epidermolysis bullosa simplex, Ogna type (AD), 131950;Epidermolysis Bullosa Simplex, Ogna Type;Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex with pyloric atresia (AR), 612138;Epidermolysis bullosa simplex including Ogna variant;Epidermolysis Bullosa Simplex With Muscular Dystrophy;Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis Bullosa Simplex, Ogna Type; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex With Muscular Dystrophy; Epidermolysis Bullosa Simplex With Pyloric Atresia to Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Phenotypes for gene: PKP1 were changed from Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa to Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Shabbir syndrome;Epidermolysis bullosa, junctional, non-Herlitz type;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Junctional Epidermolysis Bullosa;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, generalized atrophic benign, OMIM:226650; Laryngoonychocutaneous syndrome, OMIM:245660
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa Simplex, Dowling-Meara Type;Epidermolysis Bullosa Simplex;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex with mottled pigmentation, 131960;Epidermolysis Bullosa Simplex, Localized;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Phenotypes for gene: KRT5 were changed from Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Epidermolysis bullosa simplex, Koebner type, OMIM:131900; Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960; Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Dermatopathia pigmentosa reticularis (AD), 125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Epidermolysis Bullosa Simplex, Localized
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800; Dermatopathia pigmentosa reticularis (AD), OMIM:125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000; Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760; Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
Epidermolysis bullosa and congenital skin fragility v1.28 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.27 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.26 KLHL24 Ivone Leong Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex (autosomal dominant) to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Added comment: Comment on publications: Previous publications:
99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Junctional Epidermolysis bullosa;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Phenotypes for gene: ITGA3 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Epidermolysis bullosa and congenital skin fragility v1.20 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
Epidermolysis bullosa and congenital skin fragility v1.19 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM:618084
Epidermolysis bullosa and congenital skin fragility v1.18 FERMT1 Ivone Leong Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650
Epidermolysis bullosa and congenital skin fragility v1.17 EXPH5 Ivone Leong Phenotypes for gene: EXPH5 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex to Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Epidermolysis bullosa and congenital skin fragility v1.16 DST Ivone Leong Phenotypes for gene: DST were changed from Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 to Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, lethal acantholytic, 609638;Severe generalised Epidermolysis bullosa simplex;Skin fragility-woolly hair syndrome,607655;Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa to Epidermolysis bullosa, lethal acantholytic, OMIM:609638
Epidermolysis bullosa and congenital skin fragility v1.14 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Epidermolysis bullosa and congenital skin fragility v1.13 CSTA Ivone Leong Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperhidrosis HP:0000975;Peeling skin HP:0040189;OMIM:607936;erythema HP:0010783;Peeling skin syndrome 4, 607936;palmoplantar hyperkeratosis HP:0007530;Hyperkeratosis HP:0000962;Erythroderma HP:0001019;Lichenification HP:0100725;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Phenotypes for gene: CSTA were changed from Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 4, OMIM:607936
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa dystrophica (AD), 131750;Epidermolysis bullosa, pretibial (AR,AD), 131850;Epidermolysis bullosa dystrophica (AR), 226600;EBD, Bart type (AD), 132000;Dystrophic Epidermolysis Bullosa;Transient bullous of the newborn (AR,AD), 131705;EBD inversa (AR), 226600
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa, pretibial (AR,AD), 131850; Epidermolysis bullosa dystrophica (AR), 226600; EBD, Bart type (AD), 132000; Dystrophic Epidermolysis Bullosa; Transient bullous of the newborn (AR,AD), 131705; EBD inversa (AR), 226600 to Epidermolysis bullosa dystrophica (AD), OMIM:131750; Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850; Epidermolysis bullosa dystrophica (AR), OMIM:226600; EBD, Bart type (AD), OMIM:132000; Epidermolysis bullosa pruriginosa, OMIM:604129; Transient bullous of the newborn (AR,AD), OMIM:131705; EBD inversa (AR), OMIM:226600
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
OMIM:#270300;Peeling skin HP:0040189;erythema HP:0010783;Allergy HP:0012393;Peeling skin syndrome 1, 270300;Hyperkeratosis HP:0000962.;Generalised erythroderma HP:0001019;PSS1;Increased IgE level HP:0003212;Pruritus HP:0000989
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Phenotypes for gene: CDSN were changed from OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989 to Peeling skin syndrome 1, OMIM:270300
Epidermolysis bullosa and congenital skin fragility v1.8 CDSN Ivone Leong Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;Leukonychia HP:0001820;OMIM:#616295;Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295;Punctate palmoplantar hyperkeratosis HP:0007530;Knuckle pads.;Cheilitis HP:0100825
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Epidermolysis bullosa and congenital skin fragility v1.6 CAST Ivone Leong Publications for gene: CAST were set to PMID: 25683118
Epidermolysis bullosa and congenital skin fragility v1.5 ATP2C1 Ivone Leong Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600
Osteopetrosis v1.26 TNFRSF11A Eleanor Williams Added comment: Comment on phenotypes: Removing Osteolysis, familial expansile OMIM:174810 as a phenotype as it doesn't seem to have a osteopetrosis type element.
Osteopetrosis v1.26 TNFRSF11A Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 to {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301
Familial hypercholesterolaemia - targeted panel v1.9 GCKR Sarah Leigh gene: GCKR was added
gene: GCKR was added to Familial hypercholesterolaemia - targeted panel. Sources: Other
Mode of inheritance for gene: GCKR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GCKR were set to familial hypercholesterolemia MONDO:0005439
Review for gene: GCKR was set to RED
Added comment: Personal communication from Mafalda Bourbon, Head of the Cardiovascular Research Group, National Iinstitue of Health Dr Ricardo Jorge, Lisbon, Portugal: Two different heterozygous nonsense variants found in two FH patients, who were negative for variants in LDLR, APOB and PCSK9.
Sources: Other
Hypogonadotropic hypogonadism idiopathic v1.19 FGF17 Ivone Leong Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270
Hypogonadotropic hypogonadism idiopathic v1.18 TCF12 Ivone Leong Classified gene: TCF12 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.18 TCF12 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism idiopathic v1.18 TCF12 Ivone Leong Gene: tcf12 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism idiopathic v1.17 TCF12 Ivone Leong Tag Q2_21_rating tag was added to gene: TCF12.
Hypogonadotropic hypogonadism idiopathic v1.17 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Tag watchlist tag was added to gene: IGSF10.
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Classified gene: IGSF10 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so therefore this gene has been given an Amber rating.
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.306 PIGU Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; myoclonic seizures; focal myoclonic seizures; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
Intellectual disability v3.981 PIGU Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
Ichthyosis and erythrokeratoderma v1.60 SMARCAD1 Ivone Leong Phenotypes for gene: SMARCAD1 were changed from Basan syndrome, 129200; palmoplantar keratoderma to Basan syndrome, OMIM:129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.59 KRT2 Ivone Leong Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
Ichthyosis and erythrokeratoderma v1.57 TGM1 Ivone Leong Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 to Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar hyperkeratosis;KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Phenotypes for gene: TAT were changed from palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600 to Tyrosinemia, type II, OMIM:276600
Ichthyosis and erythrokeratoderma v1.55 STS Ivone Leong Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100
Ichthyosis and erythrokeratoderma v1.54 ST14 Ivone Leong Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400 to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
Ichthyosis and erythrokeratoderma v1.53 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM: 256500
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Phenotypes for gene: SLURP1 were changed from keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300 to Meleda disease, OMIM:248300
Ichthyosis and erythrokeratoderma v1.50 SLC27A4 Ivone Leong Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome, 608649 to Ichthyosis prematurity syndrome, OMIM:608649
Ichthyosis and erythrokeratoderma v1.49 SERPINB7 Ivone Leong Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
Ichthyosis and erythrokeratoderma v1.48 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar keratoderma;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Phenotypes for gene: RSPO1 were changed from palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644; Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Howel-Evans syndrome;tylosis with oesophageal cancer;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;oral leukokeratosis;Focal keratoderma;Hyperkeratosis, diffuse palmoplantar (tylosis);tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Phenotypes for gene: RHBDF2 were changed from Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER to Tylosis with esophageal cancer, OMIM:148500
Ichthyosis and erythrokeratoderma v1.45 PNPLA1 Ivone Leong Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Ichthyosis and erythrokeratoderma v1.44 PIGL Ivone Leong Phenotypes for gene: PIGL were changed from to CHIME syndrome, OMIM:280000
Ichthyosis and erythrokeratoderma v1.43 NIPAL4 Ivone Leong Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Ichthyosis and erythrokeratoderma v1.42 LOR Ivone Leong Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Focal keratoderma;Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;dystrophic nails
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Phenotypes for gene: KRT6C were changed from Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Pachyonychia congenital;Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Phenotypes for gene: KRT6A were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1 to Pachyonychia congenita 3, OMIM:615726
Ichthyosis and erythrokeratoderma v1.37 KRT17 Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype:
Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.32 KDSR Ivone Leong Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4, 617526 to Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Thrombophilia v1.11 PROC Arina Puzriakova Phenotypes for gene: PROC were changed from 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant to Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304; Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
Ichthyosis and erythrokeratoderma v1.29 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Ichthyosis and erythrokeratoderma v1.25 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084
Ichthyosis and erythrokeratoderma v1.24 FLG Ivone Leong Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700
Ichthyosis and erythrokeratoderma v1.23 ENPP1 Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.22 DSP Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
Thrombophilia v1.10 HRG Arina Puzriakova Phenotypes for gene: HRG were changed from 613116 Thrombophilia due to HRG deficiency to Thrombophilia due to HRG deficiency, OMIM:613116
Ichthyosis and erythrokeratoderma v1.20 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Arrhythmogenic right ventricular dysplasia 11, 610476;Striate keratoderma with woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Ichthyosis and erythrokeratoderma v1.18 CYP4F22 Ivone Leong Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
Ichthyosis and erythrokeratoderma v1.17 CERS3 Ivone Leong Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
Ichthyosis and erythrokeratoderma v1.16 CLDN1 Ivone Leong Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Ichthyosis and erythrokeratoderma v1.15 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Ichthyosis and erythrokeratoderma v1.14 CAST Ivone Leong Publications for gene: CAST were set to
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
familial pityriasis rubra pilaris;Pityriasis rubra pilaris, 173200;keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200
Ichthyosis and erythrokeratoderma v1.12 AQP5 Ivone Leong Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type, 600231 to Palmoplantar keratoderma, Bothnian type, OMIM:600231
Ichthyosis and erythrokeratoderma v1.11 ALOX12B Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.10 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
Ichthyosis and erythrokeratoderma v1.8 ABCA12 Ivone Leong Phenotypes for gene: ABCA12 were changed from Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 to Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500; Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratoderma
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
Thrombophilia v1.9 FGG Arina Puzriakova Phenotypes for gene: FGG were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Hypodysfibrinogenemia, OMIM:616004; Thrombophilia, MONDO:0002305
Thrombophilia v1.8 FGB Arina Puzriakova Phenotypes for gene: FGB were changed from 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Thrombophilia, MONDO:0002305
Thrombophilia v1.7 FGA Arina Puzriakova Phenotypes for gene: FGA were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Hypodysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital to 202400 Afibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital
Severe Paediatric Disorders v1.66 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Cytopenia - NOT Fanconi anaemia v1.36 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Cytopenias and congenital anaemias v1.84 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Atypical haemolytic uraemic syndrome v2.8 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Bleeding and platelet disorders v1.23 ADAMTS13 Arina Puzriakova Publications for gene: ADAMTS13 were set to 15009458; 11586351; 12753286
Thrombophilia v1.6 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Thrombophilia v1.6 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Thrombophilia v1.6 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.; to: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited bleeding disorders v1.158 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP; Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Bleeding and platelet disorders v1.21 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' - only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Thrombophilia v1.5 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI was removed from gene: ADAMTS13.
Thrombophilia v1.5 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Thrombophilia v1.5 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Hereditary Erythrocytosis v1.35 EGLN3 Arina Puzriakova Phenotypes for gene: EGLN3 were changed from erythrocytosis to Familial erythrocytosis
Hereditary Erythrocytosis v1.34 SH2B3 Arina Puzriakova Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.33 SH2B3 Arina Puzriakova Publications for gene: SH2B3 were set to
Hereditary Erythrocytosis v1.32 JAK2 Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.31 BPGM Arina Puzriakova Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800
Hereditary Erythrocytosis v1.30 VHL Arina Puzriakova Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400
Hereditary Erythrocytosis v1.29 HBB Arina Puzriakova Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from Erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.26 EPOR Arina Puzriakova Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907
Hereditary Erythrocytosis v1.24 EPAS1 Arina Puzriakova Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820
Combined factor V and VIII deficiency v1.6 MCFD2 Arina Puzriakova Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625; 227300 Combined factor V and VIII deficiency; 613625 Factor V and factor VIII, combined deficiency of to Factor V and factor VIII, combined deficiency of, OMIM:613625
Combined factor V and VIII deficiency v1.5 LMAN1 Arina Puzriakova Phenotypes for gene: LMAN1 were changed from 227300 Combined factor V and VIII deficiency; Combined factor V and VIII deficiency, 227300 to Combined factor V and VIII deficiency, OMIM:227300
Endocrine neoplasms v1.22 PTEN Ivone Leong Tag Q2_21_rating tag was added to gene: PTEN.
Tag Q2_21_NHS_review tag was added to gene: PTEN.
Endocrine neoplasms v1.22 MLH1 Ivone Leong Tag Q2_21_rating tag was added to gene: MLH1.
Tag Q2_21_NHS_review tag was added to gene: MLH1.
Endocrine neoplasms v1.22 MSH2 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH2.
Tag Q2_21_NHS_review tag was added to gene: MSH2.
Endocrine neoplasms v1.22 MSH6 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH6.
Tag Q2_21_NHS_review tag was added to gene: MSH6.
Endocrine neoplasms v1.22 PMS2 Ivone Leong Tag Q2_21_rating tag was added to gene: PMS2.
Tag Q2_21_NHS_review tag was added to gene: PMS2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 NF1 Ivone Leong Tag Q2_21_rating tag was added to gene: NF1.
Tag Q2_21_NHS_review tag was added to gene: NF1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Tag Q2_21_rating tag was added to gene: EPAS1.
Tag Q2_21_NHS_review tag was added to gene: EPAS1.
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Tag Q2_21_expert_review tag was added to gene: CCDC141.
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141.

PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected.

PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH.

PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration.

After discussing with the Genomics England Clinical Team, it was decided that this gene should have an Amber rating as variants. Helen Brittain (Genomics England):
"...variants in this gene may be seen as a risk allele (either with other known contributory genetic factors, or unexplained variable penetrance)."
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism idiopathic v1.14 CCDC141 Ivone Leong Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to Anosmic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism, MONDO:0015770
Hypogonadotropic hypogonadism idiopathic v1.13 CCDC141 Ivone Leong Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
Intestinal failure v1.12 FLNA Ivone Leong Tag Q2_21_rating tag was added to gene: FLNA.
Tag Q2_21_NHS_review tag was added to gene: FLNA.
Intestinal failure v1.12 FLNA Ivone Leong Classified gene: FLNA as Amber List (moderate evidence)
Intestinal failure v1.12 FLNA Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure v1.12 FLNA Ivone Leong Gene: flna has been classified as Amber List (Moderate Evidence).
Intestinal failure v1.11 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
Intestinal failure v1.10 FLNA Ivone Leong Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Intestinal failure v1.9 CLMP Ivone Leong Tag Q2_21_rating tag was added to gene: CLMP.
Tag Q2_21_NHS_review tag was added to gene: CLMP.
Intestinal failure v1.9 CLMP Ivone Leong Classified gene: CLMP as Amber List (moderate evidence)
Intestinal failure v1.9 CLMP Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure v1.9 CLMP Ivone Leong Gene: clmp has been classified as Amber List (Moderate Evidence).
Intestinal failure v1.8 CLMP Ivone Leong Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237
Intestinal failure v1.7 CLMP Ivone Leong Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750
Intestinal failure v1.6 CLMP Ivone Leong Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Hypogonadotropic hypogonadism idiopathic v1.12 FEZF1 Ivone Leong Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism type 22 (OMIM 616030) to Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
Vascular skin disorders v1.47 PTEN Ivone Leong Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350; capillary venous malformations to Cowden syndrome 1, OMIM:158350; capillary venous malformations
Vascular skin disorders v1.46 ATR Ivone Leong Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564
Vascular skin disorders v1.45 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy to STING-associated vasculopathy, infantile-onset, OMIM:615934
Vascular skin disorders v1.44 TMEM173 Ivone Leong Publications for gene: TMEM173 were set to
Vascular skin disorders v1.43 TEK Ivone Leong Phenotypes for gene: TEK were changed from Venous malformations to Venous malformations, multiple cutaneous and mucosal, OMIM:600195
Vascular skin disorders v1.42 TEK Ivone Leong Publications for gene: TEK were set to
Vascular skin disorders v1.41 SOX18 Ivone Leong Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
Vascular skin disorders v1.40 SOX18 Ivone Leong Publications for gene: SOX18 were set to
Vascular skin disorders v1.39 SMAD4 Ivone Leong Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Vascular skin disorders v1.38 SMAD4 Ivone Leong Publications for gene: SMAD4 were set to
Vascular skin disorders v1.37 SCN9A Ivone Leong Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020
Vascular skin disorders v1.36 SCN9A Ivone Leong Publications for gene: SCN9A were set to
Vascular skin disorders v1.35 RASA1 Ivone Leong Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation syndrome to Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354
Vascular skin disorders v1.34 RASA1 Ivone Leong Publications for gene: RASA1 were set to
Vascular skin disorders v1.33 PIK3R2 Ivone Leong Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387 to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387
Vascular skin disorders v1.32 PIK3R2 Ivone Leong Publications for gene: PIK3R2 were set to
Vascular skin disorders v1.31 PIK3CA Ivone Leong Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformations to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291
Vascular skin disorders v1.30 PIK3CA Ivone Leong Publications for gene: PIK3CA were set to
Vascular skin disorders v1.29 KRIT1 Ivone Leong Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
Vascular skin disorders v1.28 KRIT1 Ivone Leong Publications for gene: KRIT1 were set to
Vascular skin disorders v1.27 GLMN Ivone Leong Phenotypes for gene: GLMN were changed from Glomulovenous malformations to Glomulovenous malformations, OMIM:138000
Vascular skin disorders v1.26 GLMN Ivone Leong Publications for gene: GLMN were set to
Vascular skin disorders v1.25 FOXC2 Ivone Leong Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400
Vascular skin disorders v1.24 FOXC2 Ivone Leong Publications for gene: FOXC2 were set to
Vascular skin disorders v1.23 FLT4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile haemangioma;Milroy disease
Vascular skin disorders v1.23 FLT4 Ivone Leong Phenotypes for gene: FLT4 were changed from Infantile haemangioma; Milroy disease to Hemangioma, capillary infantile, somatic, OMIM:602089
Vascular skin disorders v1.22 FLT4 Ivone Leong Publications for gene: FLT4 were set to
Vascular skin disorders v1.21 FECH Ivone Leong Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000
Vascular skin disorders v1.20 F12 Ivone Leong Phenotypes for gene: F12 were changed from Hereditary angioedema to Angioedema, hereditary, type III, OMIM:610618
Vascular skin disorders v1.19 F12 Ivone Leong Publications for gene: F12 were set to
Vascular skin disorders v1.18 EPHB4 Ivone Leong Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196 to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196
Vascular skin disorders v1.17 EPHB4 Ivone Leong Publications for gene: EPHB4 were set to
Vascular skin disorders v1.16 ENG Ivone Leong Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Vascular skin disorders v1.15 ENG Ivone Leong Publications for gene: ENG were set to
Vascular skin disorders v1.14 CCBE1 Ivone Leong Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Vascular skin disorders v1.13 CCBE1 Ivone Leong Publications for gene: CCBE1 were set to
Vascular skin disorders v1.12 ATM Ivone Leong Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900
Vascular skin disorders v1.11 ATM Ivone Leong Publications for gene: ATM were set to
Vascular skin disorders v1.10 ALAS2 Ivone Leong Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Vascular skin disorders v1.9 ALAS2 Ivone Leong Publications for gene: ALAS2 were set to
Vascular skin disorders v1.8 ADAMTS13 Ivone Leong Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Vascular skin disorders v1.7 ADAMTS13 Ivone Leong Publications for gene: ADAMTS13 were set to
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hereditary haemorrhagic telengiectasia
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Vascular skin disorders v1.5 ACVRL1 Ivone Leong Publications for gene: ACVRL1 were set to
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndrome; presynaptic CMS
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323
Congenital myaesthenic syndrome v2.35 SYT2 Ivone Leong Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Congenital myaesthenic syndrome v2.34 SYT2 Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528
Congenital myaesthenic syndrome v2.33 SLC5A7 Ivone Leong Phenotypes for gene: SLC5A7 were changed from Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Congenital myaesthenic syndrome v2.32 SLC25A1 Ivone Leong Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic; 618197 to Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
Congenital myaesthenic syndrome v2.31 SLC18A3 Ivone Leong Phenotypes for gene: SLC18A3 were changed from Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Congenital myaesthenic syndrome v2.30 SCN4A Ivone Leong Phenotypes for gene: SCN4A were changed from Myasthenic syndrome, congenital, 16, 614198; Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes to Myasthenic syndrome, congenital, 16, OMIM:614198
Congenital myaesthenic syndrome v2.29 RAPSN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset
Congenital myaesthenic syndrome v2.29 RAPSN Ivone Leong Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Congenital myaesthenic syndrome v2.28 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; myasthenic syndrome; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Congenital myaesthenic syndrome v2.26 LRP4 Ivone Leong Phenotypes for gene: LRP4 were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 17, 616304 to ?Myasthenic syndrome, congenital, 17, OMIM:616304
Congenital myaesthenic syndrome v2.25 GMPPB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome;muscular dystrophy-dystroglycanopathy;congenital muscular dystrophy with mental retardation;GMPPB-CMS;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome;MDDGC14 with features of CMS
Congenital myaesthenic syndrome v2.25 GMPPB Ivone Leong Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS to Congenital Myasthenic Syndrome, MONDO:0018940
Pulmonary arterial hypertension v2.9 AQP1 Nicholas Morrell reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;tubular aggregates
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Phenotypes for gene: GFPT1 were changed from Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;tubular aggregates;congenital disorder of glycosylation type Ij (CDG-IJ)
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034
Congenital myaesthenic syndrome v2.20 COL13A1 Ivone Leong Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720
Congenital myaesthenic syndrome v2.19 CHRNG Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenia gravis, neonatal transient;Neonatal congenital myasthenia;escobar syndrome;fetal akinesia deformation sequence syndrome/FADS;multiple pterygium syndrome/MPS
Congenital myaesthenic syndrome v2.19 CHRNG Ivone Leong Phenotypes for gene: CHRNG were changed from Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS to transient neonatal myasthenia gravis, MONDO:0018326
Congenital myaesthenic syndrome v2.18 CHRNE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Reduced channel conductance syndrome
Congenital myaesthenic syndrome v2.18 CHRNE Ivone Leong Phenotypes for gene: CHRNE were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323; Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Myasthenic syndrome, slow-channel congenital, 601462;Congenital Myasthenic Syndrome, Dominant/Recessive
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Congenital Myasthenic Syndrome, Dominant/Recessive to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314; Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Added comment: Comment on publications: In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; 8651643; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 1A, slow-channel, 601462;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Phenotypes for gene: CHRNA1 were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome to Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462; Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Added comment: Comment on publications: PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Publications for gene: CHRNA1 were set to 7619526; 15034283; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.12 CHAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EA
Congenital myaesthenic syndrome v2.12 CHAT Ivone Leong Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA to Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Phenotypes for gene: ALG2 were changed from Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Congenital myaesthenic syndrome v2.10 ALG14 Ivone Leong Phenotypes for gene: ALG14 were changed from Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
Congenital myaesthenic syndrome v2.9 AGRN Ivone Leong Phenotypes for gene: AGRN were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Cystic kidney disease v2.23 FLCN Daniel Gale gene: FLCN was added
gene: FLCN was added to Cystic kidney disease. Sources: Literature,Expert Review
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to PMID: 19785621; 31266032
Phenotypes for gene: FLCN were set to renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma
Penetrance for gene: FLCN were set to Incomplete
Review for gene: FLCN was set to GREEN
Added comment: Birt Hogg Dube syndrome (caused by variants in FLCN) is frequently associated with multiple renal cysts, without renal enlargement or progressive CKD. Previous published data indicate simple renal cysts present in 31-45% (PMID: 31266032;19785621) of patients with BHD and audit of 20 patients I follow up revealed simple renal cysts in 11 (multiple in 9 of these individuals) i.e. similar to the literature. Therefore BHD should be considered in the differential diagnosis of multiple renal cysts (without renal enlargement).
Sources: Literature, Expert Review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots Deleted their review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.7 ALX1 Tracy Lester reviewed gene: ALX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia type 3 613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
TEST_OCT_2020_1 v0.7 AGA Tracy Lester reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
TEST_OCT_2020_1 v0.6 ALX1 Eleanor Williams gene: ALX1 was added
gene: ALX1 was added to TEST_OCT_2020_1. Sources: Literature
Mode of inheritance for gene: ALX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.5 AGA Eleanor Williams gene: AGA was added
gene: AGA was added to TEST_OCT_2020_1. Sources: Literature
Mode of inheritance for gene: AGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus v2.11 EEF2 Eleanor Williams Tag Q2_21_rating tag was added to gene: EEF2.
Hydrocephalus v2.11 EEF2 Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence)
Hydrocephalus v2.11 EEF2 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.
Hydrocephalus v2.11 EEF2 Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.10 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephaly
Review for gene: EEF2 was set to GREEN
Added comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly)
Sources: Literature
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported. Added to panel at recommendation of Genomics England clinician.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.8 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.75 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype.
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.52 COL6A3 Ivone Leong Classified gene: COL6A3 as Amber List (moderate evidence)
Structural eye disease v1.52 COL6A3 Ivone Leong Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.51 COL6A3 Ivone Leong gene: COL6A3 was added
gene: COL6A3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 33304895
Phenotypes for gene: COL6A3 were set to Peters anomaly
Review for gene: COL6A3 was set to AMBER
Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

Zornitza's review on the Cataracts panel (Version 2.66)
"Not sure if this is the right panel for Peters anomaly. Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. Sources: Literature
Zornitza Stark (Australian Genomics), 7 Jan 2021"

There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating.
Sources: Literature
Cataracts v2.66 COL6A3 Ivone Leong Classified gene: COL6A3 as Red List (low evidence)
Cataracts v2.66 COL6A3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel.

This gene has been added to the Structural eye disease panel (panel ID: 509).
Cataracts v2.66 COL6A3 Ivone Leong Gene: col6a3 has been classified as Red List (Low Evidence).
Disorders of sex development v2.45 FGFR2 Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGFR2.
Disorders of sex development v2.45 FGFR2 Ivone Leong Classified gene: FGFR2 as Amber List (moderate evidence)
Disorders of sex development v2.45 FGFR2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

After consulting with the Genomics England Clinical Team, it was decided that this gene should be rated Amber. Helen Brittain (Genomics England):
"In the fetal cases the potential DSD phentoype is very mild and eclipsed by the skeletal / craniosynostosis presentation."
Disorders of sex development v2.45 FGFR2 Ivone Leong Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.50 CRYAA Ivone Leong Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129
Structural eye disease v1.49 CRYAA Ivone Leong Added comment: Comment on publications: New publication added by Zornitza Stark (Australian Genomics)
Structural eye disease v1.49 CRYAA Ivone Leong Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Leber hereditary optic neuropathy v1.9 DNAJC30 Ivone Leong Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy; LHON-like to Leber hereditary optic neuropathy, MONDO:0010788; LHON-like
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Classified gene: DNAJC30 as Amber List (moderate evidence)
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Gene: dnajc30 has been classified as Amber List (Moderate Evidence).
Leber hereditary optic neuropathy v1.7 DNAJC30 Ivone Leong Tag watchlist was removed from gene: DNAJC30.
Tag Q2_21_rating tag was added to gene: DNAJC30.
Tag Q2_21_NHS_review tag was added to gene: DNAJC30.
Disorders of sex development v2.44 NR3C1 Ivone Leong Publications for gene: NR3C1 were set to 30158362; 31995340; 19933394; 7683692; 11932321; 31145715
Disorders of sex development v2.43 NR3C1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715).

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Disorders of sex development v2.43 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of sex development v2.42 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of sex development v2.41 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v2.40 NR3C1 Ivone Leong Publications for gene: NR3C1 were set to 30158362
Disorders of sex development v2.39 NR3C1 Ivone Leong Classified gene: NR3C1 as Amber List (moderate evidence)
Disorders of sex development v2.39 NR3C1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715).

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Disorders of sex development v2.39 NR3C1 Ivone Leong Gene: nr3c1 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.38 NR3C1 Ivone Leong Tag Q2_21_rating tag was added to gene: NR3C1.
Disorders of sex development v2.38 NR3C1 Ivone Leong Phenotypes for gene: NR3C1 were changed from Glucocorticoid resistance (MIM#615962) to Glucocorticoid resistance, OMIM:615962
Paediatric motor neuronopathies v1.62 VAPB Ivone Leong Phenotypes for gene: VAPB were changed from Spinal muscular atrophy, late-onset, Finkel type 182980; Amyotrophic lateral sclerosis 8 608627 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
Paediatric motor neuronopathies v1.61 SETX Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Paediatric motor neuronopathies v1.60 REEP1 Ivone Leong Phenotypes for gene: REEP1 were changed from ?Neuronopathy, distal hereditary motor, type VB 614751 to ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
Paediatric motor neuronopathies v1.59 HSPB8 Ivone Leong Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590
Paediatric motor neuronopathies v1.58 HSPB8 Ivone Leong Publications for gene: HSPB8 were set to 15122253
Paediatric motor neuronopathies v1.57 HSPB1 Ivone Leong Phenotypes for gene: HSPB1 were changed from to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
Paediatric motor neuronopathies v1.56 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081; neuronopathy, distal hereditary motor, MONDO:0000075
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.54 ATP7A Ivone Leong Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric motor neuronopathies v1.53 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease, OMIM:309400; Occipital horn syndrome, OMIM:304150; Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
Paediatric motor neuronopathies v1.52 ALS2 Ivone Leong Phenotypes for gene: ALS2 were changed from juvenile amyotrophic lateral sclerosis-2, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Spastic paralysis, infantile onset ascending, OMIM:607225
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, OMIM:607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A 607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile Spinal Muscular Atrophy, X-Linked;Spinal muscular atrophy, X-linked 2, infantile, 301830
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Phenotypes for gene: UBA1 were changed from Infantile Spinal Muscular Atrophy, X-Linked; Spinal muscular atrophy, X-linked 2, infantile, 301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Paediatric motor neuronopathies v1.49 UBA1 Ivone Leong Publications for gene: UBA1 were set to PMID: 23518311
Paediatric motor neuronopathies v1.48 TRPV4 Ivone Leong Phenotypes for gene: TRPV4 were changed from Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, OMIM:113500
Paediatric motor neuronopathies v1.47 SPG11 Ivone Leong Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile 602099 to Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Paediatric motor neuronopathies v1.46 SMN1 Ivone Leong Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150 to Spinal muscular atrophy 1, OMIM:253300; Spinal muscular atrophy 2, OMIM:253550; Spinal muscular atrophy 3, OMIM:253400; Spinal muscular atrophy 4, OMIM:271150
Paediatric motor neuronopathies v1.45 SLC52A3 Ivone Leong Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Paediatric motor neuronopathies v1.44 SLC52A2 Ivone Leong Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
Paediatric motor neuronopathies v1.43 IGHMBP2 Ivone Leong Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Paediatric motor neuronopathies v1.42 EXOSC3 Ivone Leong Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Paediatric motor neuronopathies v1.41 DYNC1H1 Ivone Leong Phenotypes for gene: DYNC1H1 were changed from Spinal muscular atrophy, lower extremity-predominant, AD, 158600 to Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Paediatric motor neuronopathies v1.40 CHCHD10 Ivone Leong Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.37 ASAH1 Ivone Leong Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 to Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Paediatric motor neuronopathies v1.36 AR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Paediatric motor neuronopathies v1.36 AR Ivone Leong Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Ehlers Danlos syndromes v2.57 PIEZO2 Ivone Leong Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, 248700; Connective tissue disorder to ?Marden-Walker syndrome, OMIM:248700; connective tissue disease, MONDO:0003900
Ehlers Danlos syndromes v2.56 NOTCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Connective Tissue Disorders;Aortic valve disease 1, 109730;Familial thoracic aortic aneurysm;Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndromes v2.56 NOTCH1 Ivone Leong Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV) to connective tissue disease, MONDO:0003900
Ehlers Danlos syndromes v2.55 MYLK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm
Ehlers Danlos syndromes v2.55 MYLK Ivone Leong Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780
Ehlers Danlos syndromes v2.54 DCC Ivone Leong Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Ehlers Danlos syndromes v2.53 ACTA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis;moya moya syndrome
Ehlers Danlos syndromes v2.53 ACTA2 Ivone Leong Phenotypes for gene: ACTA2 were changed from Thoracic aortic aneurysm and dissection; Aortic aneurysm, familial thoracic 6; 611788; Moyamoya disease 5; 614042; Thoracic aneurysms congenital mydriasis; moya moya syndrome to Aortic aneurysm, familial thoracic 6, OMIM:611788
Ehlers Danlos syndromes v2.52 ABL1 Ivone Leong Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, 617602 to Congenital heart defects and skeletal malformations syndrome, OMIM:617602
Ehlers Danlos syndromes v2.51 ZNF469 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 1, 229200;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndromes v2.51 ZNF469 Ivone Leong Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 1, OMIM:229200
Ehlers Danlos syndromes v2.50 TNXB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;Classical-like EDS;clEDS;Ehlers-Danlos syndrome, classic-like type
Ehlers Danlos syndromes v2.50 TNXB Ivone Leong Phenotypes for gene: TNXB were changed from Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; Classical-like EDS; clEDS; Ehlers-Danlos syndrome, classic-like type to Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
Ehlers Danlos syndromes v2.49 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome 2, 610168 to Loeys-Dietz syndrome 2, OMIM:610168
Ehlers Danlos syndromes v2.48 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192
Ehlers Danlos syndromes v2.47 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582
Ehlers Danlos syndromes v2.46 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816
Ehlers Danlos syndromes v2.45 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome 3, 613795 to Loeys-Dietz syndrome 3, OMIM:613795
Ehlers Danlos syndromes v2.44 SMAD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Loeys-Dietz syndrome;LDS3;arterial aneurysms and dissections
Ehlers Danlos syndromes v2.44 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome; LDS3; arterial aneurysms and dissections to Loeys-Dietz syndrome, MONDO:0018954
Ehlers Danlos syndromes v2.43 SLC39A13 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
Ehlers Danlos syndromes v2.43 SLC39A13 Ivone Leong Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
Ehlers Danlos syndromes v2.42 SKI Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
Ehlers Danlos syndromes v2.41 ROBO3 Ivone Leong Phenotypes for gene: ROBO3 were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Ehlers Danlos syndromes v2.40 RIN2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndrome
Ehlers Danlos syndromes v2.40 RIN2 Ivone Leong Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Ehlers Danlos syndromes v2.39 PYCR1 Ivone Leong Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Ehlers Danlos syndromes v2.38 PRDM5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 2, 614170;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndromes v2.38 PRDM5 Ivone Leong Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 2, OMIM:614170
Ehlers Danlos syndromes v2.37 PLOD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
Ehlers Danlos syndromes v2.37 PLOD1 Ivone Leong Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Ehlers Danlos syndromes v2.36 LTBP4 Ivone Leong Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177
Ehlers Danlos syndromes v2.35 LOX Ivone Leong Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Ehlers Danlos syndromes v2.34 GORAB Ivone Leong Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 to Geroderma osteodysplasticum, OMIM:231070
Ehlers Danlos syndromes v2.33 FKBP14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndromes v2.33 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Ehlers Danlos syndromes v2.32 FBN2 Ivone Leong Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050
Ehlers Danlos syndromes v2.31 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
Ehlers Danlos syndromes v2.30 FBLN5 Ivone Leong Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal dominant 2, 614434; Cutis laxa, autosomal recessive, type IA, 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Ehlers Danlos syndromes v2.29 ELN Ivone Leong Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700
Ehlers Danlos syndromes v2.28 EFEMP2 Ivone Leong Phenotypes for gene: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Ehlers Danlos syndromes v2.27 DSE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ehlers Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type;DSE-deficient EDS
Ehlers Danlos syndromes v2.27 DSE Ivone Leong Phenotypes for gene: DSE were changed from ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Ehlers Danlos syndromes v2.26 COL6A3 Ivone Leong Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndromes v2.25 COL6A2 Ivone Leong Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndromes v2.24 COL6A1 Ivone Leong Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndromes v2.23 COL5A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndromes v2.23 COL5A2 Ivone Leong Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
Ehlers Danlos syndromes v2.22 COL5A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndromes v2.22 COL5A1 Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
Ehlers Danlos syndromes v2.21 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
Ehlers Danlos syndromes v2.21 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Ehlers Danlos syndromes v2.20 COL1A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
Ehlers Danlos syndromes v2.20 COL1A2 Ivone Leong Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
Ehlers Danlos syndromes v2.19 COL1A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
Ehlers Danlos syndromes v2.19 COL1A1 Ivone Leong Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Ehlers Danlos syndromes v2.18 COL12A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myopathic EDS;mEDS;EDS/Myopathy overlap syndrome;Ehlers-Danlos syndrome, Myopathic type
Ehlers Danlos syndromes v2.18 COL12A1 Ivone Leong Phenotypes for gene: COL12A1 were changed from Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type to Bethlem myopathy 2, OMIM:616471
Ehlers Danlos syndromes v2.17 CHST14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
Ehlers Danlos syndromes v2.17 CHST14 Ivone Leong Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
Ehlers Danlos syndromes v2.16 CBS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
Ehlers Danlos syndromes v2.16 CBS Ivone Leong Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Ehlers Danlos syndromes v2.15 C1S Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 2, 617174;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII
Ehlers Danlos syndromes v2.15 C1S Ivone Leong Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome periodontal type 2, 617174; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII to Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174
Ehlers Danlos syndromes v2.14 C1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 1, 130080;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII;Ehlers-Danlos Syndrome periodontitis type;EDSVIII;EDSPD1
Ehlers Danlos syndromes v2.14 C1R Ivone Leong Phenotypes for gene: C1R were changed from Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1 to Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
Ehlers Danlos syndromes v2.13 BGN Ivone Leong Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989
Ehlers Danlos syndromes v2.12 B4GALT7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
Ehlers Danlos syndromes v2.12 B4GALT7 Ivone Leong Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
Ehlers Danlos syndromes v2.11 B3GALT6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6
Ehlers Danlos syndromes v2.11 B3GALT6 Ivone Leong Phenotypes for gene: B3GALT6 were changed from Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS; spEDS-B3GALT6; Progeroid EDS; Spondylodysplastic EDS due to B3GALT6-deficiency; EDS progeroid type 2; EDS B3GALT6 to Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640
Ehlers Danlos syndromes v2.10 ATP7A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxa
Ehlers Danlos syndromes v2.10 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa to Occipital horn syndrome, OMIM:304150
Ehlers Danlos syndromes v2.9 ATP6V1A Ivone Leong Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
Ehlers Danlos syndromes v2.8 ATP6V0A2 Ivone Leong Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 to Cutis laxa, autosomal recessive, type IIA, OMIM:219200; Wrinkly skin syndrome, OMIM:278250
Ehlers Danlos syndromes v2.7 ALDH18A1 Ivone Leong Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 to Cutis laxa, autosomal recessive, type IIIA, OMIM:219150; Cutis laxa, autosomal dominant 3, OMIM:616603
Ehlers Danlos syndromes v2.6 AEBP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome type;EDS type;Part of the EDS spectrum
Ehlers Danlos syndromes v2.6 AEBP1 Ivone Leong Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome type; EDS type; Part of the EDS spectrum to Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000
Ehlers Danlos syndromes v2.5 ADAMTS2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7C
Ehlers Danlos syndromes v2.5 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS; EDSVIIC; EDS7C to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh edited their review of gene: CLCN6: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.; Changed rating: GREEN
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLCN6.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Neuronal ceroid lipofuscinosis v1.22 CLCN6 Sarah Leigh Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Added comment: Comment on phenotypes: There is no Mondo term for this phenotype at present
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Neuronal ceroid lipofuscinosis v1.20 CLCN6 Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
Neuronal ceroid lipofuscinosis v1.19 GRN Sarah Leigh Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
Neuronal ceroid lipofuscinosis v1.18 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Neuronal ceroid lipofuscinosis v1.17 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Neuronal ceroid lipofuscinosis v1.16 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Neuronal ceroid lipofuscinosis v1.15 KCTD7 Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
Neuronal ceroid lipofuscinosis v1.14 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Neuronal ceroid lipofuscinosis v1.13 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Neuronal ceroid lipofuscinosis v1.12 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Neuronal ceroid lipofuscinosis v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.68 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.10 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.9 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Ocular coloboma v1.43 FZD5 Ivone Leong Classified gene: FZD5 as Green List (high evidence)
Ocular coloboma v1.43 FZD5 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM.

This gene is Amber on the Structural eye disease panel (Version 1.48) with the following review and a recommendation for this gene to be promoted to Green:

"Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29

RH 1. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu et al Hum Mol Genet. 2016 Apr 1; 25(7): 13821391. Rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. UNFORNATELY, THERE ARE NO OTHER REPORTS, SO IT FALLS ONE GOOD MUTATION SHORT PF BEING GREEN. WOULD PROBABLY BE A GOOD AMBER OPTION, BUT I DON'T GET THAT OPTION IN THE RATING COLUMN...
Created: 19 Jun 2019, 3:32 p.m."

There is enough evidence for this gene to be Green.
Ocular coloboma v1.43 FZD5 Ivone Leong Gene: fzd5 has been classified as Green List (High Evidence).
Neuronal ceroid lipofuscinosis v1.8 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Neuronal ceroid lipofuscinosis v1.7 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Neuronal ceroid lipofuscinosis v1.6 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 to Kufor-Rakeb syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Cataracts v2.65 NSUN2 Ivone Leong Classified gene: NSUN2 as Red List (low evidence)
Cataracts v2.65 NSUN2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
Cataracts v2.65 NSUN2 Ivone Leong Gene: nsun2 has been classified as Red List (Low Evidence).
Cataracts v2.64 NSUN2 Ivone Leong Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts
Neuronal ceroid lipofuscinosis v1.5 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Disorders of sex development v2.37 MYRF Ivone Leong Classified gene: MYRF as Amber List (moderate evidence)
Disorders of sex development v2.37 MYRF Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be promoted to Green at the next review.
Disorders of sex development v2.37 MYRF Ivone Leong Gene: myrf has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.36 MYRF Ivone Leong Tag Q2_21_rating tag was added to gene: MYRF.
Disorders of sex development v2.36 MYRF Ivone Leong Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia to Cardiac-urogenital syndrome, OMIM:618280; gonadal hypoplasia; Mullerian duct hypoplasia
Disorders of sex development v2.35 ESR2 Ivone Leong Classified gene: ESR2 as Amber List (moderate evidence)
Disorders of sex development v2.35 ESR2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Disorders of sex development v2.35 ESR2 Ivone Leong Gene: esr2 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.34 ESR2 Ivone Leong Tag watchlist tag was added to gene: ESR2.
Disorders of sex development v2.34 ESR2 Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187 to 46,XY disorder of sex development, MONDO:0020040; ?Ovarian dysgenesis 8, OMIM:618187
Disorders of sex development v2.33 ESR2 Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187 to 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Deleted their comment
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh changed review comment from: Comment on phenotypes: There is no formal gene / disease association for PDP2.; to: Comment on phenotypes: There is no formal gene / disease association for PDP2, but pyruvate dehydrogenase deficiency MONDO:0019169 seemed a good generic phenotype for this gene.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Added comment: Comment on phenotypes: There is no formal gene / disease association for PDP2.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169
Pyruvate dehydrogenase (PDH) deficiency v1.28 TPK1 Sarah Leigh Phenotypes for gene: TPK1 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458; childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761
Pyruvate dehydrogenase (PDH) deficiency v1.27 SLC25A26 Sarah Leigh Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775
Pyruvate dehydrogenase (PDH) deficiency v1.26 SLC25A19 Sarah Leigh Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
Pyruvate dehydrogenase (PDH) deficiency v1.25 SLC19A3 Sarah Leigh Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483; biotin-responsive basal ganglia disease MONDO:0011841
Pyruvate dehydrogenase (PDH) deficiency v1.24 SLC19A2 Sarah Leigh Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Pyruvate dehydrogenase (PDH) deficiency v1.23 PDP1 Sarah Leigh Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
Pyruvate dehydrogenase (PDH) deficiency v1.22 PDHX Sarah Leigh Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503
Pyruvate dehydrogenase (PDH) deficiency v1.21 PDHB Sarah Leigh Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
Pyruvate dehydrogenase (PDH) deficiency v1.20 PDHA1 Sarah Leigh Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
Pyruvate dehydrogenase (PDH) deficiency v1.19 NFU1 Sarah Leigh Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582
Pyruvate dehydrogenase (PDH) deficiency v1.18 LONP1 Sarah Leigh Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879
Pneumothorax - familial v2.37 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 4, OMIM:614816
Pneumothorax - familial v2.36 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pyruvate dehydrogenase (PDH) deficiency v1.17 LIPT2 Sarah Leigh Phenotypes for gene: LIPT2 were changed from ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668; encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
Pneumothorax - familial v2.35 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.34 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.33 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax - familial v2.32 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome,MONDO:0018954
Pneumothorax - familial v2.31 TSC2 Ivone Leong Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254 to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pyruvate dehydrogenase (PDH) deficiency v1.16 LIPT1 Sarah Leigh Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576
Pneumothorax - familial v2.30 TSC1 Ivone Leong Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100
Pyruvate dehydrogenase (PDH) deficiency v1.15 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to
Pneumothorax - familial v2.29 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168 to Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.28 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192 to Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.27 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582
Pyruvate dehydrogenase (PDH) deficiency v1.14 ISCA2 Sarah Leigh Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
Pneumothorax - familial v2.26 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816 to Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816
Pyruvate dehydrogenase (PDH) deficiency v1.13 ISCA1 Sarah Leigh Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
Pyruvate dehydrogenase (PDH) deficiency v1.12 ISCA1 Sarah Leigh Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
Pneumothorax - familial v2.25 SERPINA1 Ivone Leong Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Emphysema/cirrhosis due to AAT deficiency, 613490 to Emphysema due to AAT deficiency, OMIM:613490; Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490
Pyruvate dehydrogenase (PDH) deficiency v1.11 IBA57 Sarah Leigh Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132
Pyruvate dehydrogenase (PDH) deficiency v1.10 HIBCH Sarah Leigh Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Pyruvate dehydrogenase (PDH) deficiency v1.9 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859; spasticity-ataxia-gait anomalies syndrome MONDO:0014803; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860; sideroblastic anemia 3 MONDO:0014804
Pyruvate dehydrogenase (PDH) deficiency v1.8 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Pyruvate dehydrogenase (PDH) deficiency v1.7 ECHS1 Sarah Leigh Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563
Pyruvate dehydrogenase (PDH) deficiency v1.6 DLD Sarah Leigh Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529
Pyruvate dehydrogenase (PDH) deficiency v1.5 DLAT Sarah Leigh Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 to PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348; pyruvate dehydrogenase E2 deficiency MONDO:0009502
Pyruvate dehydrogenase (PDH) deficiency v1.4 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299; multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675
Non-acute porphyrias v1.21 GATA1 Sarah Leigh Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367; thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Pneumothorax - familial v2.24 FLCN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube Syndrome
Pneumothorax - familial v2.24 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax - familial v2.23 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
Non-acute porphyrias v1.20 UROS Sarah Leigh Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Non-acute porphyrias v1.19 UROS Sarah Leigh Publications for gene: UROS were set to 27604308
Pneumothorax - familial v2.21 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
Non-acute porphyrias v1.18 UROD Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
Surfactant deficiency v1.9 SFTPA2 Ivone Leong Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500
Surfactant deficiency v1.8 SFTPC Ivone Leong Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
Surfactant deficiency v1.7 SFTPB Ivone Leong Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120
Surfactant deficiency v1.6 NKX2-1 Ivone Leong Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Surfactant deficiency v1.5 ABCA3 Ivone Leong Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
Non-acute porphyrias v1.17 UROD Sarah Leigh Publications for gene: UROD were set to 27604308
Skeletal muscle channelopathy v1.21 SCN4A Eleanor Williams commented on gene: SCN4A
Non-acute porphyrias v1.16 PPOX Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
Severe early-onset obesity v2.37 TUB Ivone Leong Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v2.36 SH2B1 Ivone Leong Phenotypes for gene: SH2B1 were changed from obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency to obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Severe early-onset obesity v2.35 INPP5E Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300
Severe early-onset obesity v2.35 INPP5E Ivone Leong Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v2.34 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v2.33 VPS13B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhood
Severe early-onset obesity v2.33 VPS13B Ivone Leong Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, 216550; Cohen syndrome; Truncal obesity developing in mid-childhood to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v2.32 TTC8 Ivone Leong Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, 615985; Bardet-Biedl syndrome 8 to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v2.31 SIM1 Ivone Leong Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
Non-acute porphyrias v1.15 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308
Non-acute porphyrias v1.14 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294
Severe early-onset obesity v2.30 SIM1 Ivone Leong Added comment: Comment on publications: 25805767;24814368 (functional evidence);24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet;24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type;23778139 - case-control study, variable penetrance of the variants in extended family studies;23778136;16924270
Severe early-onset obesity v2.30 SIM1 Ivone Leong Publications for gene: SIM1 were set to 25805767; 24814368 (functional evidence); 24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet; 24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type; 23778139 - case-control study, variable penetrance of the variants in extended family studies; 23778136; 16924270
Severe early-onset obesity v2.29 SDCCAG8 Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16; Bardet-Biedl syndrome 16, 615993 to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v2.28 POMC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
{Obesity, early-onset, susceptibility to}, 601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734;Congenital Obesity;{Obesity, early-onset, susceptibility to}, 601665
Severe early-onset obesity v2.28 POMC Ivone Leong Phenotypes for gene: POMC were changed from {Obesity, early-onset, susceptibility to}, 601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; Congenital Obesity; {Obesity, early-onset, susceptibility to}, 601665 to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Non-acute porphyrias v1.13 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Skeletal muscle channelopathy v1.21 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400
Skeletal muscle channelopathy v1.20 CACNA1S Eleanor Williams commented on gene: CACNA1S
Non-acute porphyrias v1.12 CPOX Sarah Leigh Deleted their comment
Non-acute porphyrias v1.12 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Added comment: Comment on phenotypes: Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
Non-acute porphyrias v1.10 CPOX Sarah Leigh Publications for gene: CPOX were set to 27604308
Non-acute porphyrias v1.9 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721
Non-acute porphyrias v1.8 ALAD Sarah Leigh Publications for gene: ALAD were set to 27604308
Non-acute porphyrias v1.7 ALAD Sarah Leigh Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.66 VPS33A Sarah Leigh Publications for gene: VPS33A were set to 28013294; 27547915
Lysosomal storage disorder v1.65 VPS33A Sarah Leigh Phenotypes for gene: VPS33A were changed from Mucopolysaccharidosis-plus syndrome (MIM#617303) to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Lysosomal storage disorder v1.64 CTSF Sarah Leigh Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Lysosomal storage disorder v1.63 CTSF Sarah Leigh edited their review of gene: CTSF: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.; Changed rating: GREEN
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Tag Q2_21_rating tag was added to gene: CTSF.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence)
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.62 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Skeletal muscle channelopathy v1.20 SLC2A1 Eleanor Williams Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Skeletal muscle channelopathy v1.19 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300; Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.18 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.17 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.16 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.15 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.14 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.13 PYGM Eleanor Williams Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: ATP13A2.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh edited their review of gene: ATP13A2: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene for Parkinson disease 9. At least five variants reported in at least five unrelated cases, together with supportive functional studies.; Changed rating: GREEN
Skeletal muscle channelopathy v1.12 KCNA1 Eleanor Williams Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120
Skeletal muscle channelopathy v1.11 CLCN1 Eleanor Williams Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700
Skeletal muscle channelopathy v1.10 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.60 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, MIM# 617225 to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Lysosomal storage disorder v1.59 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2 204500 to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Lysosomal storage disorder v1.58 SUMF1 Sarah Leigh Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency OMIM:272200; mucosulfatidosis MONDO:0010088
Lysosomal storage disorder v1.57 SMPD1 Sarah Leigh Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616 to Niemann-Pick disease, type A OMIM:257200; Niemann-Pick disease type A MONDO:0009756; Niemann-Pick disease, type B OMIM:607616; Niemann-Pick disease type B MONDO:0011871
Lysosomal storage disorder v1.56 SLC17A5 Sarah Leigh Phenotypes for gene: SLC17A5 were changed from Salla disease 604369; Sialic acid storage disorder, infantile 269920 to Salla disease OMIM:604369; Salla disease MONDO:0011449; Sialic acid storage disorder, infantile OMIM:269920; free sialic acid storage disease, infantile form MONDO:0010027
Lysosomal storage disorder v1.55 SGSH Sarah Leigh Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 to Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900; Sanfilippo syndrome type A MONDO:0009655
Lysosomal storage disorder v1.54 PSAP Sarah Leigh Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
Lysosomal storage disorder v1.53 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 256730 to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Lysosomal storage disorder v1.52 NPC2 Sarah Leigh Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 607625 to Niemann-pick disease, type C2 OMIM:607625; Niemann-Pick disease, type C2 MONDO:0011873
Lysosomal storage disorder v1.51 NPC1 Sarah Leigh Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757
Lysosomal storage disorder v1.50 NEU1 Sarah Leigh Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738
Lysosomal storage disorder v1.49 NAGLU Sarah Leigh Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
Lysosomal storage disorder v1.48 NAGA Sarah Leigh Phenotypes for gene: NAGA were changed from Schindler disease, type I 609241; Schindler disease, type III 609241 to Schindler disease, type I OMIM:609241; Schindler disease, type III OMIM:609241; alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221; Kanzaki disease OMIM:609242; alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222
Severe early-onset obesity v2.27 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v2.26 PCSK1 Ivone Leong Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Added comment: Comment on publications: 16702999 functional studies;27884935;29100083;24950379 GWAS found signals close to this gene associated with birth weight;26727462 association with physical activity score;26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference;15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Publications for gene: NTRK2 were set to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.24 NTRK2 Ivone Leong Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v2.23 MYT1L Ivone Leong Added comment: Comment on publications: 26240977 - patient with normal weight at 4.5 years of age;
25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”;25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN);24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity;21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.23 MYT1L Ivone Leong Publications for gene: MYT1L were set to 26240977 - patient with normal weight at 4.5 years of age; 25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”; 25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN); 24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity; 21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.22 MYT1L Ivone Leong Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, 616521; intellectual disability to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v2.21 MKS1 Ivone Leong Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, 615990; Bardet-Biedl syndrome 13 to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v2.20 MKKS Ivone Leong Phenotypes for gene: MKKS were changed from Obesity; Bardet-Biedl syndrome 6; Bardet-Biedl syndrome 6, 605231 to Obesity; Bardet-Biedl syndrome 6, OMIM:605231
Severe early-onset obesity v2.19 MC4R Ivone Leong Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Lysosomal storage disorder v1.47 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951 to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Severe early-onset obesity v2.18 LEPR Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency, 614963; Congenital Obesity to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v2.17 LEPR Ivone Leong Added comment: Comment on publications: 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders;
26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents;
25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island;
24611737 - uncertain heterozygous variant reported;24319006 - two homozygous cases reported (Pakistan);
23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.17 LEPR Ivone Leong Publications for gene: LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.16 LEP Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962; Congenital Obesity to Obesity, morbid, due to leptin deficiency, OMIM:614962
Severe early-onset obesity v2.15 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
Severe early-onset obesity v2.14 CEP19 Ivone Leong Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, 615703 to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v2.13 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Obesity; Bardet-Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9 to Obesity; Bardet-Biedl syndrome 9, OMIM:615986
Severe early-onset obesity v2.12 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, 615984; Bardet-Biedl syndrome 7 to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v2.11 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5 to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v2.10 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, 615982; Bardet-Biedl syndrome 4 to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v2.9 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2, 615981 to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v2.8 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12, 615989 to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v2.7 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 10, 615987 to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v2.6 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1, 209900 to Obesity; Bardet-Biedl syndrome 1, OMIM:209900
Severe early-onset obesity v2.5 ARL6 Ivone Leong Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3 to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Lysosomal storage disorder v1.46 MCOLN1 Sarah Leigh Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV 252650 to Mucolipidosis IV OMIM:252650; mucolipidosis type IV MONDO:0009653
Hypertrophic cardiomyopathy - teen and adult v2.18 FHOD3 Ivone Leong Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Lysosomal storage disorder v1.45 MANBA Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 to Mannosidosis, beta OMIM:248510; beta-mannosidosis MONDO:0009562
Hypertrophic cardiomyopathy - teen and adult v2.17 FHOD3 Ivone Leong Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Lysosomal storage disorder v1.44 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II OMIM:248500; alpha-mannosidosis MONDO:0009561
Lysosomal storage disorder v1.43 LIPA Sarah Leigh Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease 278000; Wolman disease 278000 to Cholesteryl ester storage disease OMIM:278000; Wolman disease OMIM:278000; lysosomal acid lipase deficiency MONDO:0010204
Lysosomal storage disorder v1.42 LAMP2 Sarah Leigh Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281
Lysosomal storage disorder v1.41 IDUA Sarah Leigh Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 to Mucopolysaccharidosis Ih OMIM:607014; Hurler syndrome MONDO:0011758; Mucopolysaccharidosis Is OMIM:607016; Scheie syndrome MONDO:0011760; Mucopolysaccharidosis Ih/s OMIM:607015; Hurler-Scheie syndromeMONDO:0011759
Lysosomal storage disorder v1.40 IDS Sarah Leigh Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II OMIM:309900; mucopolysaccharidosis type 2 MONDO:0010674
Lysosomal storage disorder v1.39 HYAL1 Sarah Leigh Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657
Lysosomal storage disorder v1.37 HEXB Sarah Leigh Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms 268800 to Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800; Sandhoff disease MONDO:0010006
Lysosomal storage disorder v1.36 HEXA Sarah Leigh Phenotypes for gene: HEXA were changed from Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800 to Tay-Sachs disease OMIM:272800; GM2-gangliosidosis, several forms OMIM:272800; Tay-Sachs disease MONDO:0010100
Lysosomal storage disorder v1.35 GUSB Sarah Leigh Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII OMIM:253220; mucopolysaccharidosis type 7 MONDO:0009662
Lysosomal storage disorder v1.34 GNPTG Sarah Leigh Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma 252605 to Mucolipidosis III gamma OMIM:252605; mucolipidosis type III gamma MONDO:0009652
Lysosomal storage disorder v1.33 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type III MONDO:0018931
Lysosomal storage disorder v1.32 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931
Lysosomal storage disorder v1.31 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta 252500 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650
Lysosomal storage disorder v1.30 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Sialuria 269921 (AD); Nonaka myopathy 605820 to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.29 GM2A Sarah Leigh Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Deleted their comment
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Added comment: Comment on phenotypes: Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
Lysosomal storage disorder v1.27 GLA Sarah Leigh Phenotypes for gene: GLA were changed from Fabry disease 301500 to Fabry disease OMIM:301500; Fabry disease MONDO:0010526
Lysosomal storage disorder v1.26 GBA Sarah Leigh Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266
Monogenic diabetes v2.41 ZMPSTE24 Ivone Leong Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
Monogenic diabetes v2.40 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410
Monogenic diabetes v2.39 ZBTB20 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primrose syndrome, 259050;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
Monogenic diabetes v2.39 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) to diabetes mellitus (disease), MONDO:0005015
Monogenic diabetes v2.38 WFS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
diabetes insipidus or optic atrophy;Wolfram-like syndrome, autosomal dominant, 614296;Deafness, autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};Deafness,autosomal dominant 6/14/38, 600965;Wolfram syndrome, 222300;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;?Cataract 41,116400
Monogenic diabetes v2.38 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 to Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
Monogenic diabetes v2.37 TRMT10A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies;young onset diabetes, short stature and microcephaly with intellectual disability;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic diabetes v2.37 TRMT10A Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
Monogenic diabetes v2.36 SLC29A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782
Monogenic diabetes v2.36 SLC29A3 Ivone Leong Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Monogenic diabetes v2.35 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710;recessive syndromic diabetes and autosomal dominant MODY
Monogenic diabetes v2.35 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY to Mitchell-Riley syndrome, OMIM:615710
Monogenic diabetes v2.34 PPP1R15B Ivone Leong Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
Monogenic diabetes v2.33 PPARG Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Lipodystrophy, familial partial, type 3, 604367;FPLD3;{Diabetes, type 2}, 125853;[Obesity, resistance to];Obesity, severe, 601665;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;Insulin resistance, severe, digenic, 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Lipodystrophy, familial partial, type 3 604367;Carotid intimal medial thickness 1, 609338
Monogenic diabetes v2.33 PPARG Ivone Leong Phenotypes for gene: PPARG were changed from Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; [Obesity, resistance to]; Obesity, severe, 601665; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Lipodystrophy, familial partial, type 3 604367; Carotid intimal medial thickness 1, 609338 to Lipodystrophy, familial partial, type 3, OMIM:604367; Insulin resistance, severe, digenic, OMIM:604367; Obesity, severe, OMIM:601665; {Diabetes, type 2}, OMIM:125853
Monogenic diabetes v2.32 PLIN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.32 PLIN1 Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877
Monogenic diabetes v2.31 PIK3R1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome
Monogenic diabetes v2.31 PIK3R1 Ivone Leong Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880
Lysosomal storage disorder v1.25 GALNS Sarah Leigh Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA OMIM:253000; mucopolysaccharidosis type 4A MONDO:0009659
Lysosomal storage disorder v1.24 GALC Sarah Leigh Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease OMIM:245200; Krabbe disease MONDO:0009499
Monogenic diabetes v2.30 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis 1;MODY4;Maturity-Onset Diabetes Of The Young;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4;Permanent neonatal diabetes;Maturity-onset diabetes of the young (MODY);MODY type IV;Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392
Monogenic diabetes v2.30 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392
Lysosomal storage disorder v1.23 GAA Sarah Leigh Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II OMIM:232300; glycogen storage disease II MONDO:0009290
Monogenic diabetes v2.29 PCBD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic diabetes v2.29 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070
Monogenic diabetes v2.28 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Lysosomal storage disorder v1.22 FUCA1 Sarah Leigh Phenotypes for gene: FUCA1 were changed from Fucosidosis 230000 to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254
Monogenic diabetes v2.27 PAX6 Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
Monogenic diabetes v2.27 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015
Monogenic diabetes v2.26 PAX6 Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
Monogenic diabetes v2.26 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015
Lysosomal storage disorder v1.21 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Monogenic diabetes v2.25 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Maturity-onset diabetes of the young 6, 606394;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6;{Diabetes mellitus, noninsulin-dependent}, 125853;Maturity-Onset Diabetes Of The Young;MODY6;Permanent neonatal diabetes and cerebellar agenesis;Maturity Onset Diabetes of the Young
Monogenic diabetes v2.25 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
Lysosomal storage disorder v1.20 CTSK Sarah Leigh Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800; pycnodysostosis MONDO:0009940
Lysosomal storage disorder v1.19 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 OMIM:610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Lysosomal storage disorder v1.18 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
Lysosomal storage disorder v1.17 CTSA Sarah Leigh Phenotypes for gene: CTSA were changed from Galactosialidosis 256540 to Galactosialidosis OMIM:256540; galactosialidosis MONDO:0009737
Lysosomal storage disorder v1.16 CTNS Sarah Leigh Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064
Monogenic diabetes v2.24 MT-TL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
MIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetes
Monogenic diabetes v2.24 MT-TL1 Ivone Leong Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785
Monogenic diabetes v2.23 LMNA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
FPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.23 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 2, OMIM:151660; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.22 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820; Maturity-onset diabetes of the young, type 13, OMIM:616329
Monogenic diabetes v2.21 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient Neonatal diabetes mellitus (Dominant);Transient Neonatal Diabetes, Dominant;Diabetes mellitus, transient neonatal, 3, 610582;Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive);Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;Maturity Onset Diabetes of the Young;{Diabetes mellitus, type 2, susceptibility to}, 125853;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Transient Neonatal, 3;Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal;Diabetes mellitus, trans;Diabetes Mellitus, Transient Neonatal, 3
Monogenic diabetes v2.21 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; {Diabetes mellitus, type 2, susceptibility to}, 125853; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820
Monogenic diabetes v2.20 INSR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Leprechaunism, 246200;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Rabson-Mendenhall syndrome, 262190;Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans;OMIM 610549;Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities;Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans;Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, 609968;DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Monogenic diabetes v2.20 INSR Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS to Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549; Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Leprechaunism, OMIM:246200; Rabson-Mendenhall syndrome, OMIM:262190
Intestinal failure v1.5 FLNA Miranda Durkie gene: FLNA was added
gene: FLNA was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Phenotypes for gene: FLNA were set to Congenital short bowel
Penetrance for gene: FLNA were set to unknown
Review for gene: FLNA was set to GREEN
Added comment: Congenital short bowel not included in other panels - overlap with intestinal failure presentation
PMID: 23037936 - affected males in 2 families
PMID: 33464596 - 1 affected male
Sources: Literature
Lysosomal storage disorder v1.15 ARSG Sarah Leigh edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; Changed rating: GREEN
Intestinal failure v1.5 CLMP Miranda Durkie gene: CLMP was added
gene: CLMP was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Phenotypes for gene: CLMP were set to Congenital short bowel
Penetrance for gene: CLMP were set to unknown
Review for gene: CLMP was set to GREEN
Added comment: Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation
PMID: 33384711 - 2 brothers with compound het LOF variants
PMID: 31061750 - 1 proband with homozygous LOF CLMP variants
PMID: 27720179 1 proband with compound het LOF variants
PMID: 27352967: 3 patients from 2 families
PMID: 22155368 - initial paper
Sources: Literature
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Tag Q2_21_rating tag was added to gene: ARSG.
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381; 33300174
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Classified gene: ARSG as Amber List (moderate evidence)
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Gene: arsg has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.13 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
Lysosomal storage disorder v1.12 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from Usher syndrome, type IV 618144 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141
Monogenic diabetes v2.19 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
MODY10;Maturity-onset diabetes of the young, type 10, 613370;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, insulin-dependent, 2, 125852;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10;Maturity Onset Diabetes of the Young;Permanent Neonatal diabetes mellitus;Hyperproinsulinemia, familial, with or without diabetes;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, type 1, 125852
Monogenic diabetes v2.19 INS Ivone Leong Phenotypes for gene: INS were changed from MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214
Monogenic diabetes v2.18 HNF4A Ivone Leong Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 to {Diabetes mellitus, noninsulin-dependent}, OMIM:125853; MODY, type I , OMIM:125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Monogenic diabetes v2.17 HNF1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;Renal Cysts and Diabetes Syndrome;Diabetes mellitus, noninsulin-dependent, 125853;Maturity-Onset Diabetes Of The Young;RCAD;renal malformation;{Renal cell carcinoma}, 144700;Renal cysts and diabetes syndrome, 137920;RENAL CYSTS AND DIABETES SYNDROME
Monogenic diabetes v2.17 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME to transient neonatal diabetes mellitus (disease), MONDO:0020525; Type 2 diabetes mellitus, OMIM:125853; maturity-onset diabetes of the young (disease), MONDO:0018911
Cataracts v2.63 DYRK1A Sarah Leigh Publications for gene: DYRK1A were set to 28053047; 25944381
Structural eye disease v1.48 DYRK1A Sarah Leigh Publications for gene: DYRK1A were set to 19081073; 28135719
Skeletal muscle channelopathy v1.9 CACNA1A Eleanor Williams Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 to Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500
Skeletal muscle channelopathy v1.8 ATP2A1 Eleanor Williams Phenotypes for gene: ATP2A1 were changed from Brody myopathy, 601003 to Brody myopathy OMIM:601003
Autosomal recessive primary hypertrophic osteoarthropathy v1.9 ACVR1 Eleanor Williams Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, 135100 to Fibrodysplasia ossificans progressiva OMIM:135100
Autosomal recessive primary hypertrophic osteoarthropathy v1.8 SLCO2A1 Eleanor Williams Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441
Autosomal recessive primary hypertrophic osteoarthropathy v1.7 HPGD Eleanor Williams Phenotypes for gene: HPGD were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
Monogenic diabetes v2.16 GCK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:

Transient Neonatal Diabetes, Recessive;MODY2;Diabetes mellitus, permanent neonatal, 606176;Maturity-Onset Diabetes Of The Young;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Permanent neonatal diabetes;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2;Permanent Neonatal Diabetes Mellitus (recessive);Maturity-onset diabetes of the young (MODY);Permanent Neonatal Diabetes Mellitus;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, gestational, 125851;MODY, type II, 125851;Maturity Onset Diabetes of the Young;Neonatal diabetes;Fasting hyperglycaemia
Monogenic diabetes v2.16 GCK Ivone Leong Phenotypes for gene: GCK were changed from Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young; Neonatal diabetes; Fasting hyperglycaemia to Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; MODY, type II, OMIM:125851; Diabetes mellitus, permanent neonatal 1, OMIM:606176
Monogenic diabetes v2.15 HNF1A Ivone Leong Added comment: Comment on phenotypes: Phenotypes were previous:
Hepatic adenoma, somatic, 142330;Maturity-Onset Diabetes Of The Young;{Diabetes mellitus, insulin-dependent}, 222100;Renal cell carcinoma, 144700;MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520;Diabetes mellitus, insulin-dependent, 20, 612520;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3;MODY3;Maturity-onset diabetes of the young (MODY);{Diabetes mellitus, noninsulin-dependent, 2}, 125853;MODY, type III, 600496;Maturity Onset Diabetes of the Young
Monogenic diabetes v2.15 HNF1A Ivone Leong Phenotypes for gene: HNF1A were changed from Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496
Polycystic liver disease interim v1.23 TERT Ivone Leong Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) to {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989; {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989
Polycystic liver disease interim v1.22 TERC Ivone Leong Phenotypes for gene: TERC were changed from Dyskeratosiscongenita, autosomal dominant 1 (127550) to Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550
Polycystic liver disease interim v1.21 STN1 Ivone Leong Phenotypes for gene: STN1 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Polycystic liver disease interim v1.20 SEC61B Ivone Leong Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts to Association with polycystic liver disease 1 with or without renal cysts; Polycystic liver disease 1, MONDO:0008265
Osteopetrosis v1.25 PLEKHM1 Eleanor Williams Phenotypes for gene: PLEKHM1 were changed from ?Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 618107 to ?Osteopetrosis, autosomal recessive 6 OMIM:611497; Osteopetrosis, autosomal dominant 3 OMIM:618107
Osteopetrosis v1.24 TYROBP Eleanor Williams Phenotypes for gene: TYROBP were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770
Osteopetrosis v1.23 TNFSF11 Eleanor Williams Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 259710 to Osteopetrosis, autosomal recessive 2 OMIM:259710
Osteopetrosis v1.22 TNFRSF11A Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile 174810; {Paget disease of bone 2, early-onset} 602080; Osteopetrosis, autosomal recessive 7 612301 to Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301
Osteopetrosis v1.21 TGFB1 Eleanor Williams Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease 131300 to Camurati-Engelmann disease OMIM:131300
Osteopetrosis v1.20 TCIRG1 Eleanor Williams Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1 259700 to Osteopetrosis, autosomal recessive 1 OMIM:259700
Osteopetrosis v1.19 SOST Eleanor Williams Phenotypes for gene: SOST were changed from Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100 to Sclerosteosis 1 OMIM:269500; Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860; Van Buchem disease OMIM:239100
Osteopetrosis v1.18 SNX10 Eleanor Williams Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 615085 to Osteopetrosis, autosomal recessive 8 OMIM:615085
Osteopetrosis v1.17 RASGRP2 Eleanor Williams Phenotypes for gene: RASGRP2 were changed from none to osteopetrosis (disease) MONDO:0017198
Osteopetrosis v1.16 RASGRP2 Eleanor Williams Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to none
Osteopetrosis v1.15 RASGRP2 Eleanor Williams Added comment: Comment on phenotypes: Removing phenotype "?Bleeding disorder, platelet-type, 18 615888" as does not appear to be associated with Osteopetrosis
Osteopetrosis v1.15 RASGRP2 Eleanor Williams Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to ?Bleeding disorder, platelet-type, 18 615888
Osteopetrosis v1.14 PTH1R Eleanor Williams Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400 to Chondrodysplasia, Blomstrand type OMIM:215045; Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400
Osteopetrosis v1.13 OSTM1 Eleanor Williams Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5 OMIM:259720
Osteopetrosis v1.12 LRP5 Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal OMIM:144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636
Osteopetrosis v1.11 LRP5 Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636
Osteopetrosis v1.10 LEMD3 Eleanor Williams Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis 166700; Buschke-Ollendorff syndrome 166700 to Osteopoikilosis with or without melorheostosis OMIM:166700; Buschke-Ollendorff syndrome OMIM:166700
Osteopetrosis v1.9 FERMT3 Eleanor Williams Phenotypes for gene: FERMT3 were changed from Leukocyte adhesion deficiency, type III 612840 to Leukocyte adhesion deficiency, type III OMIM:612840
Osteopetrosis v1.8 FAM20C Eleanor Williams Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome OMIM:259775
Osteopetrosis v1.7 CTSK Eleanor Williams Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800
Osteopetrosis v1.6 CLCN7 Eleanor Williams Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4 OMIM:611490; Osteopetrosis, autosomal dominant 2 OMIM:166600
Osteopetrosis v1.5 CA2 Eleanor Williams Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM:259730
Osteopetrosis v1.4 ANKH Eleanor Williams Phenotypes for gene: ANKH were changed from Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 to Chondrocalcinosis 2 OMIM:118600; Craniometaphyseal dysplasia OMIM:123000
Fetal anomalies v1.635 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 32909676; Phenotypes: limb contractures, ventriculomegaly, stillbirth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.69 T Arina Puzriakova Phenotypes for gene: T were changed from Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978 to Chordoma (disease), MONDO:0008978
Sarcoma susceptibility v1.68 WT1 Arina Puzriakova Phenotypes for gene: WT1 were changed from Wilms tumour 1, 194070 to Wilms tumour 1, OMIM:194070; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.67 TNFRSF11A Arina Puzriakova Phenotypes for gene: TNFRSF11A were changed from Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma to {Paget disease of bone 2, early-onset}, OMIM:602080; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.66 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor, somatic 606764; Familial GIST to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Sarcoma susceptibility v1.65 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Rhabdomyosarcoma 2, alveolar, 268220 to Rhabdomyosarcoma 2, alveolar, OMIM:268220
Sarcoma susceptibility v1.64 PAX3 Arina Puzriakova Phenotypes for gene: PAX3 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova changed review comment from: Comment on mode of inheritance: somatic mosaicism; to: Comment on mode of inheritance: One case with somatic mosaicism (PMID: 20805368)
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova Added comment: Comment on mode of inheritance: somatic mosaicism
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova Mode of inheritance for gene: KRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Sarcoma susceptibility v1.62 KRAS Arina Puzriakova Publications for gene: KRAS were set to
Sarcoma susceptibility v1.61 KRAS Arina Puzriakova Phenotypes for gene: KRAS were changed from Nevus, Epidermal 162900 to Nevus, Epidermal, OMIM:162900; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.60 FOXO1 Arina Puzriakova Phenotypes for gene: FOXO1 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220
Sarcoma susceptibility v1.59 DICER1 Arina Puzriakova Publications for gene: DICER1 were set to 30989777
Sarcoma susceptibility v1.58 CREBBP Arina Puzriakova Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome 1, 180849 to Rubinstein-Taybi syndrome 1, OMIM:180849; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.57 WRN Arina Puzriakova Phenotypes for gene: WRN were changed from Werner syndrome 277700 to Werner syndrome, OMIM:277700; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.56 SMARCB1 Arina Puzriakova Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517
Sarcoma susceptibility v1.54 SMARCA4 Arina Puzriakova Mode of inheritance for gene: SMARCA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.53 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from undifferentiated uterine sarcoma to Uterine corpus sarcoma, MONDO:0005210
Sarcoma susceptibility v1.52 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.51 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.50 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.49 RB1 Arina Puzriakova Phenotypes for gene: RB1 were changed from Retinoblastoma, 180200 to Retinoblastoma, OMIM:180200; Osteosarcoma, somatic, OMIM:259500
Sarcoma susceptibility v1.48 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from Paraganglioma to Leiomyosarcoma, MONDO:0005058
Sarcoma susceptibility v1.47 PTEN Arina Puzriakova Mode of inheritance for gene: PTEN was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.46 PTEN Arina Puzriakova Publications for gene: PTEN were set to
Sarcoma susceptibility v1.45 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337
Sarcoma susceptibility v1.45 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 4, OMIM:619101; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.44 NBN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Aplastic anemia, OMIM:609135 and Leukemia, acute lymphoblastic, OMIM:613065
Sarcoma susceptibility v1.44 NBN Arina Puzriakova Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, OMIM:251260; Rhabdomyosarcoma (disease), MONDO:0005212
Congenital disorders of glycosylation v2.66 SLC35D1 Sarah Leigh Added comment: Comment on phenotypes: 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital disorders of glycosylation v2.66 SLC35D1 Sarah Leigh Phenotypes for gene: SLC35D1 were changed from 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia OMIM:269250; schneckenbecken dysplasia MONDO:0010013
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Tag Q2_21_MOI tag was added to gene: KIDINS220.
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: After consultation with the Genomics England clinical team changing the MOI rating to BOTH monoallelic and biallelic but leaving the amber rating with a recommendation for this gene to be discussed at the next GMS review with regards to the 2 biallelic cases and the partially supportive mouse model.
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarcoma susceptibility v1.43 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 3, OMIM:619097; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.42 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 2, OMIM:619096; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.41 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 1, OMIM:276300; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.40 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Sarcoma susceptibility v1.39 KIT Arina Puzriakova Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Sarcoma susceptibility v1.38 HRAS Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, OMIM:218040; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.37 FH Arina Puzriakova Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer 150800 to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyosarcoma, MONDO:0005058
Sarcoma susceptibility v1.36 ERCC2 Arina Puzriakova Mode of inheritance for gene: ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.35 ATM Arina Puzriakova Publications for gene: ATM were set to 27498913; 30567006
Sarcoma susceptibility v1.34 ATM Arina Puzriakova Publications for gene: ATM were set to 27498913
Primary immunodeficiency v2.402 MR1 Boaz Palterer gene: MR1 was added
gene: MR1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MR1 were set to 32709702
Phenotypes for gene: MR1 were set to Warts, bacterial infections, MAIT cells deficiency
Penetrance for gene: MR1 were set to unknown
Review for gene: MR1 was set to RED
Added comment: Howson et al. describe a single patient with resistant warts and bacterial infections, with a homozygous MR1 variant (p.R9H) causing a selective MAIT cells deficiency.
Sources: Literature
Sarcoma susceptibility v1.33 APC Arina Puzriakova Publications for gene: APC were set to
Sarcoma susceptibility v1.32 ERCC2 Arina Puzriakova Phenotypes for gene: ERCC2 were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.31 CDKN1C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with IMAGE syndrome, OMIM:614732
Sarcoma susceptibility v1.31 CDKN1C Arina Puzriakova Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650 to Beckwith-Wiedemann syndrome, OMIM:130650; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.30 BUB1B Arina Puzriakova Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1, 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.29 BRCA2 Arina Puzriakova Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.28 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.27 BLM Arina Puzriakova Mode of inheritance for gene: BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.26 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom to Bloom syndrome, OMIM:210900; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.25 ATR Arina Puzriakova Mode of inheritance for gene: ATR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.24 ATM Arina Puzriakova Mode of inheritance for gene: ATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.23 ATR Arina Puzriakova Phenotypes for gene: ATR were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.22 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.21 APC Arina Puzriakova Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.20 APC Arina Puzriakova Phenotypes for gene: APC were changed from Gardner / fibromatosis; Gardner syndrome to Gardner syndrome, OMIM:175100; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.19 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from Sarcoma; Li-Fraumeni syndrome, 151623 to Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.18 T Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Neural tube defects, susceptibility to}, OMIM:182940; Sacral agenesis with vertebral anomalies, OMIM:615709
Sarcoma susceptibility v1.18 T Arina Puzriakova Phenotypes for gene: T were changed from Familial Chordoma; Chordoma to Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978
Sarcoma susceptibility v1.17 SQSTM1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437; Myopathy, distal, with rimmed vacuoles, OMIM:617158; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Sarcoma susceptibility v1.17 SQSTM1 Arina Puzriakova Phenotypes for gene: SQSTM1 were changed from Osteosarcoma; Paget disease of bone 3 167250 to Paget disease of bone 3, OMIM:167250; Paget disease of bone 3, MONDO:0008176; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.16 RECQL4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Baller-Gerold syndrome, OMIM:218600
Sarcoma susceptibility v1.16 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.15 NF1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321; Neurofibromatosis, familial spinal, OMIM:162210; Watson syndrome, OMIM:193520
Sarcoma susceptibility v1.15 NF1 Arina Puzriakova Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200 to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis type 1, MONDO:0018975
Sarcoma susceptibility v1.14 MTAP Arina Puzriakova Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250; Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205
Sarcoma susceptibility v1.13 EXT2 Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Seizures, scoliosis, and macrocephaly syndrome (MIM# 616682)
Sarcoma susceptibility v1.13 EXT2 Arina Puzriakova Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Exostoses, multiple, type 2, OMIM:133701; Exostoses, multiple, type 2, MONDO:0007586
Sarcoma susceptibility v1.12 EXT1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Exostoses, multiple, type 1 (MIM# 133700)
Sarcoma susceptibility v1.12 EXT1 Arina Puzriakova Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977
Osteopetrosis v1.3 AMER1 Eleanor Williams Phenotypes for gene: AMER1 were changed from Osteopathia striata with cranial sclerosis 300373 to Osteopathia striata with cranial sclerosis OMIM:300373
Common craniosynostosis syndromes v1.13 TWIST1 Eleanor Williams Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400 to Craniosynostosis 1 OMIM:123100; Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
Common craniosynostosis syndromes v1.12 TCF12 Eleanor Williams Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3 OMIM:615314
Common craniosynostosis syndromes v1.11 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans OMIM:612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601
Common craniosynostosis syndromes v1.10 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601
Common craniosynostosis syndromes v1.9 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410; Apert syndrome OMIM:101200; Beare-Stevenson cutis gyrata syndrome OMIM:123790; Pfeiffer syndrome OMIM:101600; Craniofacial-skeletal-dermatologic dysplasia OMIM:101600; Crouzon syndrome OMIM:123500; Jackson-Weiss syndrome OMIM:123150; Saethre-Chotzen syndrome OMIM:101400; Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579
Common craniosynostosis syndromes v1.8 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440
Common craniosynostosis syndromes v1.7 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600
Common craniosynostosis syndromes v1.6 ERF Eleanor Williams Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4 OMIM:600775
Common craniosynostosis syndromes v1.5 ERF Eleanor Williams Phenotypes for gene: ERF were changed from Chitayat syndrome 617180; Craniosynostosis 4 600775 to Craniosynostosis 4 600775
Common craniosynostosis syndromes v1.4 EFNB1 Eleanor Williams Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia OMIM:304110
Haematuria v2.11 CFHR5 Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809 to Nephropathy due to CFHR5 deficiency OMIM:614809
Haematuria v2.10 MYH9 Eleanor Williams Added comment: Comment on phenotypes: Note, Epstein syndrome #153650 and Fechtner syndrome #153640 have been merged by OMIM into Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Haematuria v2.10 MYH9 Eleanor Williams Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640 to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Haematuria v2.9 COL4A5 Eleanor Williams Phenotypes for gene: COL4A5 were changed from diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; Alport syndrome, 301050; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome; (originally on Alport syndrome gene panel) to Alport syndrome 1, X-linked OMIM:301050
Haematuria v2.8 COL4A4 Eleanor Williams Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal recessive; (originally on Alport syndrome gene panel) to Alport syndrome 2, autosomal recessive OMIM:203780; Hematuria, familial benign OMIM:141200
Haematuria v2.7 COL4A3 Eleanor Williams Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal dominant; Alport syndrome, autosomal recessive; Alport Syndrome; (originally on Alport syndrome gene panel) to Alport syndrome, autosomal dominant OMIM:104200; Alport syndrome, autosomal recessive OMIM:203780; Hematuria, benign familial OMIM:141200
Haematuria v2.6 COL4A1 Eleanor Williams Phenotypes for gene: COL4A1 were changed from Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; HANAC to Exophytic renal cysts; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
Polycystic liver disease interim v1.19 B9D1 Ivone Leong Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 to ?Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Polycystic liver disease interim v1.18 ALG9 Ivone Leong Phenotypes for gene: ALG9 were changed from ADPKD; PCLD to autosomal dominant polycystic kidney disease, MONDO:0004691; PCLD
Polycystic liver disease interim v1.17 SEC63 Ivone Leong Phenotypes for gene: SEC63 were changed from Polycystic Liver Disease 2 with or without kidney cysts (617004) to Polycystic liver disease 2, OMIM:617004
Polycystic liver disease interim v1.16 PRKCSH Ivone Leong Phenotypes for gene: PRKCSH were changed from Polycystic Liver Disease 1 with or without kidney cysts (174050) to Polycystic liver disease 1 OMIM:174050
Polycystic liver disease interim v1.15 PKHD1 Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4 with or without hepatic disease (263200) to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200; Caroli disease, MONDO:0010913
Polycystic liver disease interim v1.14 PKD2 Ivone Leong Phenotypes for gene: PKD2 were changed from Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) to Polycystic kidney disease 2, OMIM:613095; liver cysts
Polycystic liver disease interim v1.13 PKD1 Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913 to Polycystic kidney disease 1, OMIM:173900; Caroli disease, MONDO:0010913
Polycystic liver disease interim v1.12 PKD1 Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) to Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913
Polycystic liver disease interim v1.11 LRP5 Ivone Leong Phenotypes for gene: LRP5 were changed from Polycystic liver disease 4 with or without kidney cysts (617875) to Polycystic liver disease 4 with or without kidney cysts, OMIM:617875
Polycystic liver disease interim v1.10 GANAB Ivone Leong Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 (600666) to Polycystic kidney disease 3, OMIM:600666
Polycystic liver disease interim v1.9 DNAJB11 Ivone Leong Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061
Polycystic liver disease interim v1.8 ALG8 Ivone Leong Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) to Polycystic liver disease 3 with or without kidney cysts, OMIM:617874
Limb disorders v2.38 MECOM Ellen Thomas gene: MECOM was added
gene: MECOM was added to Limb disorders. Sources: Other
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis; Brachymesophalangia
Review for gene: MECOM was set to AMBER
Added comment: On bleeding disorders panels but also reported to have limb phenotypes in some patients
Sources: Other
Primary immunodeficiency v2.402 ARPC1B Nikolaos Marinakis reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33679784; Phenotypes: combined immunodeficiency, infections, allergy, inflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rhabdoid tumour predisposition v1.6 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Rhabdoid tumors, somatic (MIM# 609322); {Schwannomatosis-1, susceptibility to} (MIM# 162091); Coffin-Siris syndrome 3 (MIM# 614608)
Rhabdoid tumour predisposition v1.6 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
Intellectual disability v3.980 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from Rhabdoid tumors, somatic, 609322Rhabdoid predisposition syndrome 1, 609322Mental retardation, autosomal dominant 15, 614608; RHABDOID PREDISPOSITION SYNDROME 1 to Coffin-Siris syndrome 3, OMIM:614608
Intellectual disability v3.979 SMARCA4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
Intellectual disability v3.979 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from Rhabdoid tumor predisposition syndrome 2, 613325Mental retardation, autosomal dominant 16, 614609; COFFIN SIRIS to Coffin-Siris syndrome 4, OMIM:614609
Tumour predisposition - childhood onset v2.17 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from 613325; predisposition to small cell ca; Ovary with hypercalcemia to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Rhabdoid tumour predisposition v1.5 SMARCA4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 4 (MIM# 614609)
Rhabdoid tumour predisposition v1.5 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Inherited renal cancer v1.21 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from Renal cell carcinoma (disease), MONDO:000508 to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.20 TMEM127 Arina Puzriakova Phenotypes for gene: TMEM127 were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.19 SDHD Arina Puzriakova Mode of inheritance for gene: SDHD was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v1.18 SDHD Arina Puzriakova Publications for gene: SDHD were set to 27899189
Inherited renal cancer v1.17 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Renal cell carcinoma (disease), MONDO:000508
Inherited renal cancer v1.16 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.15 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.14 MITF Arina Puzriakova Phenotypes for gene: MITF were changed from to {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456; Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.13 MITF Arina Puzriakova Publications for gene: MITF were set to 27899189
Inherited renal cancer v1.12 CDKN2B Arina Puzriakova Phenotypes for gene: CDKN2B were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.11 VHL Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Erythrocytosis, familial, 2 (MIM# 263400); Pheochromocytoma (MIM# 171300); Renal cell carcinoma, somatic (MIM# 144700)
Inherited renal cancer v1.11 VHL Arina Puzriakova Phenotypes for gene: VHL were changed from Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater to von Hippel-Lindau syndrome, OMIM:193300; von Hippel-Lindau disease, MONDO:0008667; Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.10 SDHB Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Gastrointestinal stromal tumor (MIM# 6067640; Paraganglioma and gastric stromal sarcoma (MIM# 606864); Pheochromocytoma (MIM# 171300)
Inherited renal cancer v1.10 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma. to Paragangliomas 4, OMIM:115310; Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.9 MET Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Deafness, autosomal recessive 97 (MIM# 616705); {Osteofibrous dysplasia, susceptibility to} (MIM# 607278); Hepatocellular carcinoma, childhood type, somatic (MIM# 114550)
Inherited renal cancer v1.9 MET Arina Puzriakova Phenotypes for gene: MET were changed from hereditary papillary renal carcinoma with type 1 papillary tumors to Renal cell carcinoma, papillary, 1, familial and somatic, OMIM:605074; Papillary renal cell carcinoma, MONDO:0017884
Inherited renal cancer v1.8 FLCN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, somatic (MIM# 114500); Pneumothorax, primary spontaneous (MIM# 173600); Renal carcinoma, chromophobe, somatic (MIM# 144700)
Inherited renal cancer v1.8 FLCN Arina Puzriakova Phenotypes for gene: FLCN were changed from Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas to Birt-Hogg-Dube syndrome, OMIM:135150; Renal carcinoma, MONDO:0005206
Inherited renal cancer v1.7 FH Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Fumarase deficiency (MIM# 606812)
Inherited renal cancer v1.7 FH Arina Puzriakova Phenotypes for gene: FH were changed from Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Inherited renal cancer v1.6 BAP1 Arina Puzriakova Phenotypes for gene: BAP1 were changed from Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type to Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692; Renal cell carcinoma (disease), MONDO:0005086; Clear cell renal carcinoma, MONDO:0005005
Inherited renal cancer v1.5 BAP1 Arina Puzriakova Publications for gene: BAP1 were set to
Inherited predisposition to GIST v1.11 NF1 Arina Puzriakova Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, OMIM:162200
Inherited predisposition to GIST v1.10 SDHD Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mitochondrial complex II deficiency, nuclear type 3 (MIM# 619167); Paragangliomas 1, with or without deafness (MIM# 168000); Pheochromocytoma (MIM# 171300)
Inherited predisposition to GIST v1.10 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Inherited predisposition to GIST v1.9 SDHC Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Paragangliomas 3 (MIM# 605373)
Inherited predisposition to GIST v1.9 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Gastrointestinal stromal tumor, OMIM:606764; Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Inherited predisposition to GIST v1.8 SDHB Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Paragangliomas 4 (MIM# 115310) and Pheochromocytoma (MIM# 171300)
Inherited predisposition to GIST v1.8 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from to Gastrointestinal stromal tumor, OMIM:606764; Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Inherited predisposition to GIST v1.7 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from to Gastrointestinal stromal tumours
Inherited predisposition to GIST v1.6 PDGFRA Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Hypereosinophilic syndrome, idiopathic, resistant to imatinib (MIM# 607685)
Inherited predisposition to GIST v1.6 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Inherited predisposition to GIST v1.5 KIT Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Piebaldism (MIM# 172800); Mastocytosis, cutaneous (MIM# 154800); Mastocytosis, systemic, somatic (MIM# 154800); Germ cell tumors, somatic (MIM# 273300); Leukemia, acute myeloid, somatic (MIM# 601626)
Inherited predisposition to GIST v1.5 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Inherited polyposis v1.24 RNF43 Arina Puzriakova Publications for gene: RNF43 were set to
Inherited polyposis v1.23 RNF43 Arina Puzriakova Phenotypes for gene: RNF43 were changed from to Sessile serrated polyposis cancer syndrome, OMIM:617108
Inherited polyposis v1.22 MSH3 Arina Puzriakova Publications for gene: MSH3 were set to
Inherited polyposis v1.21 MSH3 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Endometrial carcinoma, somatic (MIM# 608089)
Inherited polyposis v1.21 MSH3 Arina Puzriakova Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4, OMIM:617100
Inherited polyposis v1.20 STK11 Arina Puzriakova Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome 175200 to Peutz-Jeghers syndrome, OMIM:175200; Peutz-Jeghers syndrome, MONDO:0008280
Inherited polyposis v1.19 SMAD4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Myhre syndrome (MIM# 139210) and Pancreatic cancer, somatic (MIM# 260350)
Inherited polyposis v1.19 SMAD4 Arina Puzriakova Phenotypes for gene: SMAD4 were changed from Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Polyposis, juvenile intestinal, OMIM:174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Hereditary neuropathy v1.383 VWA1 Alexander Rossor gene: VWA1 was added
gene: VWA1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to PMID: 33459760
Phenotypes for gene: VWA1 were set to hereditary motor neuropathy
Penetrance for gene: VWA1 were set to Complete
Mode of pathogenicity for gene: VWA1 was set to Other
Review for gene: VWA1 was set to GREEN
Added comment: Bialleleic mutations in 6 unrelated families with a common phenotype
Sources: Expert list
Inherited polyposis v1.18 PTEN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Glioma susceptibility 2} (MIM# 613028); {Meningioma} (MIM# 607174); Macrocephaly/autism syndrome (MIM# 605309); Prostate cancer, somatic (MIM# 176807)
Inherited polyposis v1.18 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Cowden syndrome 1, MONDO:0008021
Hereditary neuropathy v1.383 JAG1 Alexander Rossor gene: JAG1 was added
gene: JAG1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JAG1 were set to PMID: 32065591
Phenotypes for gene: JAG1 were set to Vocal cord palsy
Penetrance for gene: JAG1 were set to Complete
Mode of pathogenicity for gene: JAG1 was set to Other
Review for gene: JAG1 was set to AMBER
Added comment: Two unrelated families with segregation but no definite neuropathy in knock in mouse model
Sources: Expert list
Hereditary neuropathy v1.383 C1orf94 Alexander Rossor gene: C1orf94 was added
gene: C1orf94 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: C1orf94 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C1orf94 were set to PMID: 31199454
Phenotypes for gene: C1orf94 were set to Intermediate CMT
Penetrance for gene: C1orf94 were set to Complete
Mode of pathogenicity for gene: C1orf94 was set to Other
Review for gene: C1orf94 was set to GREEN
Added comment: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only
Sources: Expert list
Inherited polyposis v1.17 POLE Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with FILS syndrome (MIM# 615139) and IMAGE-I syndrome (MIM# 618336)
Inherited polyposis v1.17 POLE Arina Puzriakova Phenotypes for gene: POLE were changed from {Colorectal cancer, susceptibility to, 12} 615083 AD to {Colorectal cancer, susceptibility to, 12}, OMIM:615083
Inherited polyposis v1.16 POLD1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MIM# 615381)
Inherited polyposis v1.16 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10} 612591 to {Colorectal cancer, susceptibility to, 10}, OMIM:612591; Colorectal cancer, susceptibility to, 10, MONDO:0012953
Hearing loss v2.157 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381; Colorectalcancer,susceptibilityto,10},612591Mandibularhypoplasia,deafness,progeroidfeatures,andlipodystrophysyndrome,615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Intellectual disability v3.978 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular; hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.60 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Monogenic diabetes v2.14 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Inherited polyposis v1.15 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Mismatch repair cancer syndrome 4, OMIM:619101
Inherited polyposis v1.14 NTHL1 Arina Puzriakova Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3, OMIM:616415 to Familial adenomatous polyposis 3, OMIM:616415; NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630
Inherited polyposis v1.13 NTHL1 Arina Puzriakova Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3 616415 to Familial adenomatous polyposis 3, OMIM:616415
Inherited polyposis v1.12 MUTYH Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Gastric cancer, somatic (MIM# 613659)
Inherited polyposis v1.12 MUTYH Arina Puzriakova Phenotypes for gene: MUTYH were changed from Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 to Adenomas, multiple colorectal, OMIM:608456
Inherited polyposis v1.11 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 to Mismatch repair cancer syndrome, OMIM:276300; Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Endometrial cancer, familial, OMIM:608089
Inherited polyposis v1.10 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR to Muir-Torre syndrome, OMIM:158320; Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Mismatch repair cancer syndrome, OMIM:276300
Inherited polyposis v1.9 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome OMIM:158320 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome, OMIM:158320
Inherited polyposis v1.8 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome OMIM:158320
Inherited polyposis v1.7 EPCAM Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Diarrhea 5, with tufting enteropathy, congenital (MIM# 613217)
Inherited polyposis v1.7 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Hereditary neuropathy v1.383 SORD Alexander Rossor gene: SORD was added
gene: SORD was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to PMID: 32367058
Phenotypes for gene: SORD were set to CMT2
Penetrance for gene: SORD were set to Complete
Review for gene: SORD was set to GREEN
Added comment: bialleleic variants present in more than 3 unrelated families
Sources: Expert list
Intellectual disability v3.977 SIAH1 Arina Puzriakova Classified gene: SIAH1 as Amber List (moderate evidence)
Intellectual disability v3.977 SIAH1 Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (5) to promote this gene to Green at the next GMS panel update. Developmental delay, including cognitive impairment, was a key presenting feature of the disease phenotype. Inclusion on this panel would also cover the infantile hypotonia element as the ID panel is a component panel of the 'Hypotonic infant, R69' super panel.
Intellectual disability v3.977 SIAH1 Arina Puzriakova Gene: siah1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.976 SIAH1 Arina Puzriakova gene: SIAH1 was added
gene: SIAH1 was added to Intellectual disability. Sources: Literature
Q2_21_rating tags were added to gene: SIAH1.
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Review for gene: SIAH1 was set to GREEN
Added comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Classified gene: SYCP2L as Amber List (moderate evidence)
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Added comment: Comment on list classification: Only 2 unrelated individuals in literature at present (PMID:32303603) and therefore rating Amber until further cases are reported.
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.20 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.35 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v2.83 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Review for gene: EN1 was set to GREEN
gene: EN1 was marked as current diagnostic
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Genomic imprinting v0.94 DLK1 Zornitza Stark reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324015, 30462238; Phenotypes: central precocious puberty; Mode of inheritance: None
Intellectual disability v3.975 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Mitochondrial disorders v2.20 POLRMT Zornitza Stark Deleted their comment
Mitochondrial disorders v2.20 POLRMT Zornitza Stark edited their review of gene: POLRMT: Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.; Changed rating: GREEN; Changed publications: 33602924; Changed phenotypes: Mitochondrial disorder, intellectual disability, hypotonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Ichthyosis and erythrokeratoderma v1.6 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.

Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Hereditary neuropathy NOT PMP22 copy number v1.23 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770
Phenotypes for gene: SPTAN1 were set to Hereditary motor neuropathy
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: Gene previously associated with DEE.

PMID 32811770: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Sources: Literature
Neurodegenerative disorders - adult onset v2.42 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSAP were set to 32201884
Phenotypes for gene: PSAP were set to Parkinson disease, AD
Review for gene: PSAP was set to GREEN
Added comment: Well established gene-disease association for bi-allelic variants.

Now early-onset PD reported with mono-allelic variants. 6 affecteds from 3 families. Age of onset ranges from 33-60. Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration.
Sources: Literature
Intellectual disability v3.975 MED27 Zornitza Stark gene: MED27 was added
gene: MED27 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Intellectual disability v3.975 SPEN Zornitza Stark edited their review of gene: SPEN: Added comment: PMID: 33596411
- 34 individuals with truncating variants in SPEN reported, most are de novo variants.
- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.; Changed rating: GREEN; Changed publications: 33057194, 33596411; Changed phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Set current diagnostic: yes
Bleeding and platelet disorders v1.20 MAST2 Zornitza Stark gene: MAST2 was added
gene: MAST2 was added to Bleeding and platelet disorders. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST2 were set to 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets.
Sources: Literature
Cerebral vascular malformations v2.8 ANGPTL6 Zornitza Stark gene: ANGPTL6 was added
gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPTL6 were set to 29304371; 33106390
Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm
Review for gene: ANGPTL6 was set to GREEN
gene: ANGPTL6 was marked as current diagnostic
Added comment: Six unrelated families reported.
Sources: Literature
Neurological ciliopathies v1.15 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Congenital myopathy v2.28 ASCC3 Zornitza Stark gene: ASCC3 was added
gene: ASCC3 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Phenotypes for gene: ASCC3 were set to congenital myopathy
Review for gene: ASCC3 was set to GREEN
Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: Literature
Lysosomal storage disorder v1.11 ARSG Zornitza Stark reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hearing loss v2.156 CRYM Zornitza Stark reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia v1.212 EEF2 Eleanor Williams commented on gene: EEF2: Waiting on opinion of Genomics England clinical team as to rating and additional panels for this gene.
Hereditary ataxia v1.212 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 23001565; 33355653
Phenotypes for gene: EEF2 were set to Spinocerebellar ataxia 26 OMIM:609306
Review for gene: EEF2 was set to AMBER
Added comment: Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case.

PMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity.

PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Lysosomal storage disorder v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.10 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Lysosomal storage disorder v1.9 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Lysosomal storage disorder v1.8 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Lysosomal storage disorder v1.7 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis 228000 to Farber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218
Lysosomal storage disorder v1.6 ARSB Sarah Leigh Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200; mucopolysaccharidosis type 6 MONDO:0009661
Lysosomal storage disorder v1.5 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy 250100 to Metachromatic leukodystrophy OMIM:250100; metachromatic leukodystrophy, juvenile form MONDO:0009591
Lysosomal storage disorder v1.4 AGA Sarah Leigh Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 to Aspartylglucosaminuria OMIM:208400; aspartylglucosaminuria MONDO:0008830
Lipoprotein lipase deficiency v1.15 LIPI Sarah Leigh Phenotypes for gene: LIPI were changed from hypertriglyceridemia to hypertriglyceridemia (disease) MONDO:0005347
Lipoprotein lipase deficiency v1.14 LPL Sarah Leigh Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 to Lipoprotein lipase deficiency OMIM:238600; familial lipoprotein lipase deficiency MONDO:0009387; Combined hyperlipidemia, familial OMIM:144250; hyperlipidemia, familial combined, LPL related MONDO:0007759
Lipoprotein lipase deficiency v1.13 LMF1 Sarah Leigh Phenotypes for gene: LMF1 were changed from Lipase deficiency, combined 246650 to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527
Lipoprotein lipase deficiency v1.12 GPIHBP1 Sarah Leigh Phenotypes for gene: GPIHBP1 were changed from Hyperlipoproteinemia, type 1D 615947 to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412
Lipoprotein lipase deficiency v1.11 GPD1 Sarah Leigh Phenotypes for gene: GPD1 were changed from Hypertriglyceridemia, transient infantile 614480 to Hypertriglyceridemia, transient infantile OMIM:614480; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Lipoprotein lipase deficiency v1.10 CREB3L3 Sarah Leigh Added comment: Comment on phenotypes: There is not an OMIM or Mondo term for monogenic dominant hypertriglyceridemia associated with CREB3L3, so MONDO:0005347 has been used as a broader term
Lipoprotein lipase deficiency v1.10 CREB3L3 Sarah Leigh Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to hypertriglyceridemia (disease) MONDO:0005347
Lipoprotein lipase deficiency v1.9 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III OMIM:617347; hyperlipoproteinemia type 3 MONDO:0018473; Lipoprotein glomerulopathy OMIM:611771; lipoprotein glomerulopathy MONDO:0012725
Lipoprotein lipase deficiency v1.8 APOE Sarah Leigh Added comment: Comment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310
Lipoprotein lipase deficiency v1.8 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310
Lipoprotein lipase deficiency v1.7 APOC2 Sarah Leigh Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib 207750 to Hyperlipoproteinemia, type Ib OMIM:207750
Lipoprotein lipase deficiency v1.6 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252
Lipoprotein lipase deficiency v1.5 APOA5 Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases of Amyotrophic lateral sclerosis 19.; Changed rating: GREEN
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v2.41 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from Amyotrophic lateral sclerosis 19, 615515 to Amyotrophic lateral sclerosis 19 OMIM:615515; amyotrophic lateral sclerosis type 19 MONDO:0014223
Neurodegenerative disorders - adult onset v2.40 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 24119685
Intellectual disability v3.975 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123; 15219717; 30498032
Intellectual disability v3.974 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Intellectual disability v3.974 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability v3.973 ERBB4 Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of structural variants.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of copy number variants.
Intellectual disability v3.973 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. PMID 33603162 reports that at least six 2q34 deletions resulting in exon loss in ERBB4 may cause autosomal dominant mild to moderate developmental delay, ID or epilepsy. Rhodent knock out models support this finding (PMID 15219717;30498032).; Changed rating: GREEN; Changed publications: 15219717, 30498032; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.973 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Intellectual disability v3.973 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of structural variants.
Intellectual disability v3.973 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.972 ERBB4 Sarah Leigh Added comment: Comment on phenotypes: Amyotrophic lateral sclerosis 19 615515 is not appropriate for this panel At present there is no precise ID phenotype associated with variants in this gene.
Intellectual disability v3.972 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from intellectual disability; epilepsy to intellectual disability MONDO:0001071
Intellectual disability v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to Monoallelic MOI until consult with Genomics England clinical team.
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.633 KIDINS220 Eleanor Williams Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity. to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI from monallelic to BOTH as 2 biallelic cases have now been reported with a more severe phenotype
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.631 KIDINS220 Eleanor Williams Publications for gene: KIDINS220 were set to
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 22048169
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures in the following two publications:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 28934391; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited predisposition to acute myeloid leukaemia (AML) v1.19 SRP72 Arina Puzriakova Publications for gene: SRP72 were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v1.18 SAMD9 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with MIRAGE syndrome (MIM# 617053) and Tumoral calcinosis, familial, normophosphatemic (MIM# 610455)
Inherited predisposition to acute myeloid leukaemia (AML) v1.18 SAMD9 Arina Puzriakova Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
Inherited predisposition to acute myeloid leukaemia (AML) v1.17 SAMD9 Arina Puzriakova Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Inherited predisposition to acute myeloid leukaemia (AML) v1.16 RTEL1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (MIM# 616373)
Inherited predisposition to acute myeloid leukaemia (AML) v1.16 RTEL1 Arina Puzriakova Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 to Dyskeratosis congenita, autosomal dominant 4, OMIM:615190; Dyskeratosis congenita, autosomal recessive 5, OMIM:615190
Inherited predisposition to acute myeloid leukaemia (AML) v1.15 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Adrenocortical carcinoma, pediatric} (MIM#202300); {Basal cell carcinoma 7} (MIM# 614740), {Choroid plexus papilloma} (MIM# 260500); {Colorectal cancer}, (MIM# 114500); {Glioma susceptibility 1} (MIM# 137800); {Osteosarcoma} (MIM# 259500); Bone marrow failure syndrome 5 (MIM# 618165); Breast cancer, somatic (MIM# 114480); Hepatocellular carcinoma, somatic (MIM# 114550); Nasopharyngeal carcinoma, somatic (MIM# 607107); Pancreatic cancer, somatic (MIM# 260350)
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from 151623 (OMIM phenotype description ID); 151623 Li-Fraumeni syndrome to Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome 1, MONDO:0007903
Inherited predisposition to acute myeloid leukaemia (AML) v1.13 TERT Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (MIM# 614742) and Melanoma, cutaneous malignant, 9 (MIM# 615134)
Inherited predisposition to acute myeloid leukaemia (AML) v1.13 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Inherited predisposition to acute myeloid leukaemia (AML) v1.12 TERC Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis, idiopathic, susceptibility to (MIM#614743)
Inherited predisposition to acute myeloid leukaemia (AML) v1.12 TERC Arina Puzriakova Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743 to Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; {Aplastic anemia}, OMIM:614743
Inherited predisposition to acute myeloid leukaemia (AML) v1.11 RUNX1 Arina Puzriakova Phenotypes for gene: RUNX1 were changed from 601399 (OMIM phenotype description ID); 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy to Leukemia, acute myeloid, OMIM:601626; Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399
Inherited predisposition to acute myeloid leukaemia (AML) v1.10 GATA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Immunodeficiency 21 (MIM# 614172)
Inherited predisposition to acute myeloid leukaemia (AML) v1.10 GATA2 Arina Puzriakova Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to} to {Leukemia, acute myeloid, susceptibility to}, OMIM:601626; {Myelodysplastic syndrome, susceptibility to}, OMIM:614286; Emberger syndrome, OMIM:614038
Stickler syndrome v2.16 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.15 LOXL3 Ivone Leong Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.14 BMP4 Ivone Leong Phenotypes for gene: BMP4 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.13 GZF1 Ivone Leong Phenotypes for gene: GZF1 were changed from Larsen syndrome to Larsen syndrome, MONDO:0007875
Stickler syndrome v2.12 COL9A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia
Stickler syndrome v2.12 COL9A3 Ivone Leong Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354
Inherited predisposition to acute myeloid leukaemia (AML) v1.9 ETV6 Arina Puzriakova Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to Leukemia, acute myeloid, somatic, OMIM:601626; Thrombocytopenia 5, OMIM:616216; Acute myeloid leukemia, MONDO:0018874
Stickler syndrome v2.11 COL9A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 2, 600204;{Intervertebral disc disease, susceptibility to}, 603932;Stickler syndrome, type V, 614284
Stickler syndrome v2.11 COL9A2 Ivone Leong Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to ?Stickler syndrome, type V, OMIM:614284
Stickler syndrome v2.10 COL9A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 6, 614135;Stickler syndrome, type IV, 614134;Stickler Syndrome, Recessive
Stickler syndrome v2.10 COL9A1 Ivone Leong Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135; Stickler syndrome, type IV, 614134; Stickler Syndrome, Recessive to Stickler syndrome, type IV, OMIM:614134
Stickler syndrome v2.9 COL2A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Stickler syndrome v2.9 COL2A1 Ivone Leong Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300
Stickler syndrome v2.8 COL2A1 Ivone Leong Publications for gene: COL2A1 were set to PMID: 16752401; 20513134
Stickler syndrome v2.7 COL11A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524
Stickler syndrome v2.7 COL11A2 Ivone Leong Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
Inherited predisposition to acute myeloid leukaemia (AML) v1.8 ETV6 Arina Puzriakova Publications for gene: ETV6 were set to 28600339
Stickler syndrome v2.6 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Inherited predisposition to acute myeloid leukaemia (AML) v1.7 DDX41 Arina Puzriakova Phenotypes for gene: DDX41 were changed from 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; 616871 (OMIM phenotype description ID) to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871; DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809
Stickler syndrome v2.5 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841
Stickler syndrome v2.4 COL11A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520
Stickler syndrome v2.4 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841
Inherited predisposition to acute myeloid leukaemia (AML) v1.6 CEBPA Arina Puzriakova Phenotypes for gene: CEBPA were changed from 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID); 116897 / 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to ?Leukemia, acute myeloid, OMIM:601626; Leukemia, acute myeloid, somatic, OMIM:601626; Acute myeloid leukemia, MONDO:0018874
Inherited predisposition to acute myeloid leukaemia (AML) v1.5 ANKRD26 Arina Puzriakova Phenotypes for gene: ANKRD26 were changed from 610855; 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) to Thrombocytopenia 2, OMIM:188000; Acute myeloid leukemia, MONDO:0018874
Congenital fibrosis of the extraocular muscles v1.11 TUBB2B Ivone Leong Publications for gene: TUBB2B were set to 23001566
Congenital fibrosis of the extraocular muscles v1.10 TUBB2B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with ortical dysplasia, complex, with other brain malformations 7
Congenital fibrosis of the extraocular muscles v1.10 TUBB2B Ivone Leong Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7; Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614
Congenital fibrosis of the extraocular muscles v1.9 GRHL2 Ivone Leong Phenotypes for gene: GRHL2 were changed from Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614
Congenital fibrosis of the extraocular muscles v1.8 COL25A1 Ivone Leong Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5 616219; Fibrosis of extraocular muscles, congenital, 5 to Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Congenital fibrosis of the extraocular muscles v1.7 TUBB3 Ivone Leong Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
Congenital fibrosis of the extraocular muscles v1.6 PHOX2A Ivone Leong Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, OMIM:602078
Congenital fibrosis of the extraocular muscles v1.5 KIF21A Ivone Leong Phenotypes for gene: KIF21A were changed from Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, OMIM:135700; Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700
Aniridia v2.12 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142 to ?Aniridia 3, OMIM:617142
Aniridia v2.11 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141 to ?Aniridia 2, OMIM:617141
Aniridia v2.10 PITX2 Ivone Leong Phenotypes for gene: PITX2 were changed from to Aniridia, MONDO:0019172
Aniridia v2.9 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210 to Aniridia, OMIM:106210
Aniridia v2.8 ITPR1 Ivone Leong Phenotypes for gene: ITPR1 were changed from Gillespie syndrome 206700 to Gillespie syndrome, OMIM:206700
Aniridia v2.7 FOXC1 Ivone Leong Phenotypes for gene: FOXC1 were changed from to Aniridia, MONDO:0019172
Monogenic diabetes v2.13 GATA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis and congenital heart defects;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.13 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.12 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Pancreatic agenesis and/or congenital heart defects;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.12 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to NEONATAL DIABETES MELLITUS, MONDO:0016391; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.11 DYRK1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.11 DYRK1B Ivone Leong Phenotypes for gene: DYRK1B were changed from Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to Abdominal obesity-metabolic syndrome 3, OMIM:615812
Monogenic diabetes v2.10 DNAJC3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192;Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration
Monogenic diabetes v2.10 DNAJC3 Ivone Leong Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Monogenic diabetes v2.9 DCAF17 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Woodhouse-Sakati syndrome, 241080;Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
Monogenic diabetes v2.9 DCAF17 Ivone Leong Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness) to Woodhouse-Sakati syndrome, OMIM:241080
Monogenic diabetes v2.8 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, OMIM:604928
Monogenic diabetes v2.7 CEL Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction to Maturity-onset diabetes of the young, type VIII, OMIM:609812; Diabetes and pancreatic exocrine dysfunction
Monogenic diabetes v2.6 APPL1 Ivone Leong Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes to {Maturity-onset diabetes of the young, type 14}, OMIM:616511
Monogenic diabetes v2.5 ABCC8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, 6;Transient Neonatal Diabetes, Dominant;transient neonatal diabetes (Dominant);Diabetes mellitus, noninsulin-dependent, 125853;DIABETES MELLITUS, NONINSULIN-DEPENDENT;Diabetes mellitus, transient neonatal 2, 610374;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Hypoglycemia of infancy, leucine-sensitive, 240800;Permanent neonatal diabetes mellitus;Permanent Neonatal Diabetes Mellitus (recessive);Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus
Monogenic diabetes v2.5 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus (recessive); Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Permanent Neonatal Diabetes Mellitus to Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant); Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, transient neonatal 2, OMIM:610374; Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)
Inherited polyposis v1.6 BMPR1A Arina Puzriakova Phenotypes for gene: BMPR1A were changed from Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis to Polyposis syndrome, hereditary mixed, 2, OMIM:610069; Polyposis, juvenile intestinal, OMIM:174900
Inherited polyposis v1.5 APC Arina Puzriakova Phenotypes for gene: APC were changed from Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 to Desmoid disease, hereditary, OMIM:135290; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Adenomatous polyposis coli, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182
Diabetes - neonatal onset v2.33 AGPAT2 Ivone Leong Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to neonatal diabetes mellitus, MONDO:0016391
Diabetes - neonatal onset v2.32 AGPAT2 Ivone Leong Publications for gene: AGPAT2 were set to Poovazhagi et al., Int J Diabetes Dev Ctries (January–March 2013) 33(1):66–68, DOI 10.1007/s13410-012-0099-6
Diabetes - neonatal onset v2.31 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes, Recessive; Transient Neonatal Diabetes to Diabetes mellitus, transient neonatal, 1, OMIM:601410
Diabetes - neonatal onset v2.30 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes; Wolfram syndrome, 222300 to Wolfram-like syndrome, autosomal dominant, OMIM:614296
Inherited pancreatic cancer v1.17 STK11 Arina Puzriakova Phenotypes for gene: STK11 were changed from to Pancreatic cancer, somatic, OMIM:260350
Inherited pancreatic cancer v1.16 RABL3 Arina Puzriakova Phenotypes for gene: RABL3 were changed from Hereditary pancreatic cancer to {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680; Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Diabetes - neonatal onset v2.29 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes and additional multi-organ autoimmunity;permanent neonatal diabetes;Neonatal diabetes and early-onset multi-organ autoimmune disease
Diabetes - neonatal onset v2.29 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pancreatitis, hereditary (MIM#167800)
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Phenotypes for gene: PRSS1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Diabetes - neonatal onset v2.28 SLC2A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Fanconi-Bickel syndrome, 227810;neonatal diabetes mellitus;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes (PDNM);Fanconi Bickel Syndrome;neonatal diabetes;short stature;hepatomegaly, RTA and hypophosphatemic rickets
Diabetes - neonatal onset v2.28 SLC2A2 Ivone Leong Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes (PDNM); Fanconi Bickel Syndrome; neonatal diabetes; short stature; hepatomegaly, RTA and hypophosphatemic rickets to Fanconi-Bickel syndrome, OMIM:227810; neonatal diabetes mellitus, MONDO:0016391; transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164
Inherited pancreatic cancer v1.14 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited pancreatic cancer v1.14 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.13 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited pancreatic cancer v1.13 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.12 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited pancreatic cancer v1.12 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Diabetes - neonatal onset v2.27 SLC19A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thiamine-responsive megaloblastic anemia syndrome, 249270;neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA);permanent neonatal diabetes (PNDM);Thiamine responsive megaloblastic anaemia;neonatal diabetes
Diabetes - neonatal onset v2.27 SLC19A2 Ivone Leong Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Diabetes - neonatal onset v2.26 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710 (includes neonatal diabetes);Syndromic Neonatal diabetes;pancreatic hypoplasia, gallbladder aplasia and intestinal atresia;Mitchell-Riley syndrome
Diabetes - neonatal onset v2.26 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome to Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)
Diabetes - neonatal onset v2.25 PTF1A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069;Permanent neonatal diabetes mellitus (PNDM);Permanent neonatal diabetes with cerebellar agenesis
Diabetes - neonatal onset v2.25 PTF1A Ivone Leong Phenotypes for gene: PTF1A were changed from Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069; Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis to Pancreatic and cerebellar agenesis, OMIM:609069; Permanent neonatal diabetes mellitus, MONDO:0100164; Pancreatic agenesis 2, OMIM:615935
Diabetes - neonatal onset v2.24 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes;pancreas agenesis;permanent neonatal diabetes mellitus associated with pancreas agenesis;Pancreatic agenesis 1, 260370
Diabetes - neonatal onset v2.24 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; pancreas agenesis; permanent neonatal diabetes mellitus associated with pancreas agenesis; Pancreatic agenesis 1, 260370 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392; Permanent neonatal diabetes mellitus, MONDO:0100164; permanent neonatal diabetes mellitus associated with pancreas agenesis
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited ovarian cancer (without breast cancer) v2.20 MLH1 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320); to: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Diabetes - neonatal onset v2.23 NKX2-2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Diabetes - neonatal onset v2.23 NKX2-2 Ivone Leong Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment to Neonatal diabetes mellitus, MONDO:0016391; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Diabetes - neonatal onset v2.22 NEUROG3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)

Permanent neonatal diabetes mellitus, MONDO:0100164;
Diarrhea 4, malabsorptive, congenital, OMIM:610370
Diabetes - neonatal onset v2.22 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS) to Permanent neonatal diabetes mellitus, MONDO:0100164; Diarrhea 4, malabsorptive, congenital, OMIM:610370
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma, cutaneous malignant, 3} (MIM# 609048)
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Phenotypes for gene: CDK4 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Diabetes - neonatal onset v2.21 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and cerebellar agenesis;Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus;Maturity-onset diabetes of the young 6, 606394
Diabetes - neonatal onset v2.21 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394 to permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192; Maturity-onset diabetes of the young 6, OMIM:606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
Inherited pancreatic cancer v1.9 CDK4 Arina Puzriakova Mode of pathogenicity for gene: CDK4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Diabetes - neonatal onset v2.20 MNX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
Neonatal Diabetes;Permanent neonatal diabetes mellitus (PNDM);Recessive Neonatal diabetes;IUGR;w w/o eatures of Currarrino syndrome and sacral agenesis;Currarino syndrome, 176450
Diabetes - neonatal onset v2.20 MNX1 Ivone Leong Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450 to Neonatal Diabetes Mellitus, MONDO:0016391; Permanent neonatal diabetes mellitus, MONDO:0100164; Currarino syndrome, OMIM:176450
Diabetes - neonatal onset v2.19 LRBA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Immunodysregulation and type 1 diabetes;Immunodeficiency, common variable, 8, with autoimmunity, 614700;IPEX-like syndrome;Neonatal diabetes and additional autoimmunity
Diabetes - neonatal onset v2.19 LRBA Ivone Leong Phenotypes for gene: LRBA were changed from Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity
Diabetes - neonatal onset v2.18 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;{Diabetes mellitus, type 2, susceptibility to}, 125853;Diabetes mellitus, transient neonatal, 3, 610582;Transient Neonatal Diabetes, Dominant;Diabetes Mellitus, PermanentNeonatal;Diabetes Mellitus, Transient Neonatal, 3;Transient Neonatal diabetes mellitus (Dominant);Isolated permanent neonatal diabetes;isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Diabetes - neonatal onset v2.18 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853; Diabetes mellitus, transient neonatal, 3, OMIM:610582; Maturity-onset diabetes of the young, type 13, OMIM:616329
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 1} (MIM# 604370) and Fanconi anemia, complementation group S (MIM# 617883)
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from to {Pancreatic cancer, susceptibility to, 4}, OMIM:614320; Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, susceptibility to} (MIM# 114480) and Fanconi anemia, complementation group N (MIM# 610832)
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Phenotypes for gene: PALB2 were changed from to {Pancreatic cancer, susceptibility to, 3}, OMIM:613348; Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma and neural system tumor syndrome} (MIM# 155755) and {Melanoma, cutaneous malignant, 2} (MIM# 155601)
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from to {Melanoma-pancreatic cancer syndrome}, OMIM:606719; Melanoma-pancreatic cancer syndrome, MONDO:0011713
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 2} (MIM# 612555); {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to {Pancreatic cancer 2}, OMIM:613347; Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Diabetes - neonatal onset v2.17 INSR Ivone Leong Phenotypes for gene: INSR were changed from neonatal diabetes; Donohue syndrome, 246200 to neonatal diabetes; Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Rabson-Mendenhall syndrome, OMIM:262190
Inherited ovarian cancer (without breast cancer) v2.20 BRCA2 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724); to: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); {Pancreatic cancer 2} (MIM# 613347); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Hearing loss v2.156 MYO15A Eleanor Williams Phenotypes for gene: MYO15A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 3, 600316; hearing loss to Deafness, autosomal recessive 3 OMIM:600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Hearing loss v2.155 MYO15A Eleanor Williams Publications for gene: MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
Hearing loss v2.154 MYO15A Eleanor Williams reviewed gene: MYO15A: Rating: ; Mode of pathogenicity: None; Publications: 33078831; Phenotypes: Deafness, autosomal recessive 3 OMIM:600316, autosomal recessive nonsyndromic deafness 3 MONDO:0010860; Mode of inheritance: None
Diabetes - neonatal onset v2.16 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852;Transient Neonatal Diabetes, Dominant/Recessive;Permanent Neonatal diabetes mellitus
Diabetes - neonatal onset v2.16 INS Ivone Leong Phenotypes for gene: INS were changed from Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; Permanent Neonatal diabetes mellitus to Hyperproinsulinemia, OMIM:616214; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive); Permanent Neonatal diabetes mellitus, MONDO:010016
Diabetes - neonatal onset v2.15 IL2RA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
neonatal diabetes;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
Diabetes - neonatal onset v2.15 IL2RA Ivone Leong Phenotypes for gene: IL2RA were changed from neonatal diabetes; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive to neonatal diabetes mellitus, MONDO:0016391; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942; neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
Diabetes - neonatal onset v2.14 IER3IP1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with neonatal diabetes, permanent neonatal diabetes
Diabetes - neonatal onset v2.14 IER3IP1 Ivone Leong Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes to Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Diabetes - neonatal onset v2.13 HNF1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes mellitus;Diabetes mellitus, noninsulin-dependent, 125853;Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Diabetes - neonatal onset v2.13 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes mellitus; Diabetes mellitus, noninsulin-dependent, 125853; Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW to Transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164; Type 2 diabetes mellitus, OMIM:125853; transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Diabetes - neonatal onset v2.12 GLIS3 Ivone Leong Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism to Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199
Diabetes - neonatal onset v2.11 GCK Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
MODY, type II, 125851;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Diabetes mellitus, gestational, 125851;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, permanent neonatal, 606176;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Recessive;Permanent neonatal diabetes;Fasting hyperglycaemia, permanent neonatal diabetes
Diabetes - neonatal onset v2.11 GCK Ivone Leong Phenotypes for gene: GCK were changed from MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Permanent neonatal diabetes; Fasting hyperglycaemia, permanent neonatal diabetes to MODY, type II, OMIM:125851; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, permanent neonatal 1, OMIM:606176; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
Diabetes - neonatal onset v2.10 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects to Pancreatic agenesis and congenital heart defects, OMIM:600001; neonatal diabetes mellitus, MONDO:0016391
Diabetes - neonatal onset v2.9 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects;permanent neonatal diabetes melllitus;transient neonatal diabetes melllitus
Diabetes - neonatal onset v2.9 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects; permanent neonatal diabetes melllitus; transient neonatal diabetes melllitus to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; permanent neonatal diabetes melllitus, MONDO:0100164; Transient neonatal diabetes mellitus (disease), MONDO:0020525
Diabetes - neonatal onset v2.8 FOXP3 Ivone Leong Phenotypes for gene: FOXP3 were changed from Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)); IPEX syndrome to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
Diabetes - neonatal onset v2.7 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148 to diabetes mellitus (disease), MONDO:0005015; MEHMO syndrome, OMIM:300148
Diabetes - neonatal onset v2.6 EIF2AK3 Ivone Leong Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy) to Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Hearing loss v2.154 MYO3A Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as biallelic, but note that 2 independent cases of monallelic inheritance have been reported.
Hearing loss v2.154 MYO3A Eleanor Williams Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hearing loss v2.153 MYO3A Eleanor Williams Phenotypes for gene: MYO3A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 30, 607101; hearing loss to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774
Hearing loss v2.152 MYO3A Eleanor Williams Publications for gene: MYO3A were set to PMID:10936054; 12032315; 21165622
Hearing loss v2.151 MYO3A Eleanor Williams reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 26841241, 29880844; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101, autosomal recessive nonsyndromic deafness 30 MONDO:0011774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.19 RAD51D Arina Puzriakova Phenotypes for gene: RAD51D were changed from {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291; Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669
Inherited ovarian cancer (without breast cancer) v2.18 RAD51D Arina Puzriakova Publications for gene: RAD51D were set to
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group O (MIM# 613390)
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Phenotypes for gene: RAD51C were changed from Fanconi anemia, complementation group O, 613390; {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399; Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253
Inherited ovarian cancer (without breast cancer) v2.16 RAD51C Arina Puzriakova Publications for gene: RAD51C were set to
Hearing loss v2.151 COL9A3 Eleanor Williams Classified gene: COL9A3 as Amber List (moderate evidence)
Hearing loss v2.151 COL9A3 Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber, but there are now 4 cases with homozygous variants in this gene in patients with hearing loss. 2 cases are reported with Stickler syndrome. In the other 2 cases Stickler syndrome was not excluded. The phenotype needs to be reviewed to decide whether to encompass Stickler syndrome genes on this panel.
Hearing loss v2.151 COL9A3 Eleanor Williams Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.14 MSH6 Arina Puzriakova Publications for gene: MSH6 were set to
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Hearing loss v2.150 COL9A3 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving as Biallelic mode of inheritance as 4 cases reported with this inheritance pattern. However PMID: 15917166 also reports two cases with an AD pattern of inheritance, but no segregation data to support this.
Hearing loss v2.150 COL9A3 Eleanor Williams Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v2.12 MSH2 Arina Puzriakova Publications for gene: MSH2 were set to
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Adult Glioma; Colorectal; Endometrial Carcinoma; Hepatopancreatobiliary; Ovarian to Ovarian cancer, MONDO:0008170
Hearing loss v2.149 COL9A3 Eleanor Williams Tag Q2_21_phenotype tag was added to gene: COL9A3.
Hearing loss v2.149 COL9A3 Eleanor Williams edited their review of gene: COL9A3: Changed rating: GREEN
Hearing loss v2.149 COL9A3 Eleanor Williams edited their review of gene: COL9A3: Added comment: PMID: 33078831 - Wonkam et al 2020 - report 2 unrelated patients from Cameroon with autosomal recessive non-syndromic hearing impairment and a homozygous c.G406A, p.G136S variant in COL9A3. This variant is rare (ExAC_AFR MAF = 0, ExAC_ASI MAF = 0.001, Cameroonian controls MAF (N = 129) = 0). However, the authors report that further investigation of these patients is needed to exclude Stickler syndrome.

PMID: 15917166 - Asamura et al 2005 - direct-sequencing of COL9A3 gene in 159 non-syndromic sensorineural deafness patients (Japanese and Korean) and 150 normal controls. 2 possible disease-causing mutations were identified in patients with moderate progressive bilateral sensorineural hearing impairment in all frequencies. : a homozygous in-frame deletion of three amino acid residues (G181-P183 del) in one patient (with consanguineous parents) and a heterozygous missense mutation (D617E) found in 2 independent autosomal dominant families. No segregation data.; Changed publications: 31090205, 24273071, 33078831, 15917166; Changed phenotypes: Stickler syndrome, non-syndromic sensorineural deafness
Inherited ovarian cancer (without breast cancer) v2.10 MLH1 Arina Puzriakova Publications for gene: MLH1 were set to
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group J (MIM# 609054)
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419
Inherited ovarian cancer (without breast cancer) v2.8 BRIP1 Arina Puzriakova Publications for gene: BRIP1 were set to
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with 'Pancreatic cancer, susceptibility to, 4' (MIM# 614320) and 'Fanconi anemia, complementation group S' (MIM# 617883)
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited MMR deficiency (Lynch syndrome) v1.9 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.8 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.7 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.6 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.5 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249
Inherited MMR deficiency (Lynch syndrome) v1.4 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244; Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196
Iron metabolism disorders v1.33 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282 to Emphysema due to AAT deficiency OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders v1.32 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY P to ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders v1.31 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY to ALPHA-1-ANTITRYPSIN DEFICIENCY P
Iron metabolism disorders v1.30 SEC23B Sarah Leigh Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134
Iron metabolism disorders v1.29 ACVR1 Sarah Leigh Added comment: Comment on phenotypes: This phenotype does not appear to be relevant to this panel.
Iron metabolism disorders v1.29 ACVR1 Sarah Leigh Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100
Iron metabolism disorders v1.28 STEAP3 Sarah Leigh Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234; severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094
Iron metabolism disorders v1.27 HEPH Sarah Leigh Publications for gene: HEPH were set to
Iron metabolism disorders v1.26 FTH1 Sarah Leigh Phenotypes for gene: FTH1 were changed from 615517 ?Hemochromatosis, type 5; HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 to ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225
Iron metabolism disorders v1.25 FECH Sarah Leigh Phenotypes for gene: FECH were changed from EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 to Protoporphyria, erythropoietic, 1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Iron metabolism disorders v1.24 TFR2 Sarah Leigh Phenotypes for gene: TFR2 were changed from 604250 HEMOCHROMATOSIS, TYPE 3; 604250 Hemochromatosis, type 3; HFE3 to Hemochromatosis, type 3 OMIM:604250; hemochromatosis type 3 MONDO:0011417
Iron metabolism disorders v1.23 TF Sarah Leigh Phenotypes for gene: TF were changed from 209300 Atransferrinemia, Hypoferritinaemia; 209300 Atransferrinemia to Atransferrinemia OMIM:209300; atransferrinemia MONDO:0008846
Iron metabolism disorders v1.22 SLC40A1 Sarah Leigh Phenotypes for gene: SLC40A1 were changed from HFE4; 606069 Hemochromatosis, type 4; 606069 HEMOCHROMATOSIS, TYPE 4 to Hemochromatosis, type 4 OMIM:606069; hemochromatosis type 4 MONDO:0011631
Iron metabolism disorders v1.21 SLC25A38 Sarah Leigh Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950; sideroblastic anemia 2 MONDO:0008785
Iron metabolism disorders v1.20 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100 to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100; microcytic anemia with liver iron overload MONDO:0008787
Iron metabolism disorders v1.19 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100
Iron metabolism disorders v1.18 HFE2 Sarah Leigh Phenotypes for gene: HFE2 were changed from HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A to Hemochromatosis, type 2A OMIM:602390
Iron metabolism disorders v1.17 HAMP Sarah Leigh Phenotypes for gene: HAMP were changed from 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B to Hemochromatosis, type 2B OMIM:613313
Iron metabolism disorders v1.16 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
Iron metabolism disorders v1.15 GBA Sarah Leigh Phenotypes for gene: GBA were changed from 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I to Gaucher disease, type II OMIM:230900; Gaucher disease, type IIIC OMIM:231005; Gaucher disease, type III OMIM:231000; Gaucher disease, type I OMIM:230800
Iron metabolism disorders v1.14 FTL Sarah Leigh edited their review of gene: FTL: Added comment: The MOI for FTL should be "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to detect biallielic variants found in L-ferritin deficiency, dominant and recessive OMIM:615604.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Iron metabolism disorders v1.14 FTL Sarah Leigh Tag Q2_21_MOI tag was added to gene: FTL.
Iron metabolism disorders v1.14 FTL Sarah Leigh Phenotypes for gene: FTL were changed from Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders v1.13 FTL Sarah Leigh Deleted their comment
Iron metabolism disorders v1.13 FTL Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159
Iron metabolism disorders v1.12 FTL Sarah Leigh Added comment: Comment on phenotypes: L-ferritin deficiency, dominant and recessive OMIM:615604;Hyperferritinemia-cataract syndrome OMIM:600886;Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders v1.12 FTL Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
Iron metabolism disorders v1.11 CYBRD1 Sarah Leigh Added comment: Comment on phenotypes: There is no OMIM, MONDO or ORPHANET disease association to this gene. The term hereditary hemochromatosis MONDO:0006507 was chosen as it represent the general disease described in the limited literature associated with this gene.
Iron metabolism disorders v1.11 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from hereditary hemochromatosis MONDO:0006507 to hereditary hemochromatosis MONDO:0006507
Iron metabolism disorders v1.10 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload; Iron overload to hereditary hemochromatosis MONDO:0006507
Diabetes - neonatal onset v2.5 BSCL2 Ivone Leong Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, OMIM:269700
Diabetes - neonatal onset v2.4 ABCC8 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Diabetes - neonatal onset v2.4 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Diabetes mellitus, transient neonatal 2, OMIM:610374; Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
Iron metabolism disorders v1.9 CP Sarah Leigh Phenotypes for gene: CP were changed from 604290 Hemosiderosis, systemic, due to aceruloplasminemia; 604290 ACERULOPLASMINEMIA to aceruloplasminemia MONDO:0011426; Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Iron metabolism disorders v1.8 BMP6 Sarah Leigh Phenotypes for gene: BMP6 were changed from NA IRON OVERLOAD; 112266 Mild to moderate iron overload; Iron overload to Hemochromatosis type 5 ORPHA:447792
Primary pigmented nodular adrenocortical disease v1.7 PRKAR1A Ivone Leong Phenotypes for gene: PRKAR1A were changed from Pigmented nodular adrenocortical disease, primary, 1, 610489 to Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489
Primary pigmented nodular adrenocortical disease v1.6 PDE8B Ivone Leong Phenotypes for gene: PDE8B were changed from Pigmented nodular adrenocortical disease, primary, 3, 614190 to Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190
Primary pigmented nodular adrenocortical disease v1.5 PDE11A Ivone Leong Phenotypes for gene: PDE11A were changed from Pigmented nodular adrenocortical disease, primary, 2, 610475 to Pigmented nodular adrenocortical disease, primary, 2, OMIM:610475
Primary pigmented nodular adrenocortical disease v1.4 ARMC5 Ivone Leong Phenotypes for gene: ARMC5 were changed from ACTH-independent macronodular adrenal hyperplasia 2, 615954 to ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954
Familial tumoral calcinosis v1.7 KL Ivone Leong Phenotypes for gene: KL were changed from Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 to Tumoral calcinosis, hyperphosphatemic, familial, 3, OMIM:617994
Familial tumoral calcinosis v1.6 SAMD9 Ivone Leong Phenotypes for gene: SAMD9 were changed from Tumoral calcinosis, familial, normophosphatemic, 610455 to Tumoral calcinosis, familial, normophosphatemic, OMIM:610455
Familial tumoral calcinosis v1.5 GALNT3 Ivone Leong Phenotypes for gene: GALNT3 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Familial tumoral calcinosis v1.4 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 to Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993
Iron metabolism disorders v1.7 BMP6 Sarah Leigh Publications for gene: BMP6 were set to 26582087
Hypocalciuric hypercalcaemia v2.8 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740) to Hypocalciuric hypercalcemia, type III, OMIM:600740
Hypocalciuric hypercalcaemia v2.7 GNA11 Ivone Leong Phenotypes for gene: GNA11 were changed from Hypocalcemia, autosomal dominant 2 (615361); Hypocalciuric hypercalcemia, type II (145981) to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981
Hypocalciuric hypercalcaemia v2.6 CASR Ivone Leong Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I (145980) to Hypocalciuric hypercalcemia, type I, OMIM:145980
Hypocalciuric hypercalcaemia v2.5 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740); FHH to Hypocalciuric hypercalcemia, type III (600740)
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ulnar-mammary syndrome 181450
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Phenotypes for gene: TBX3 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.36 TBX3 Ivone Leong Publications for gene: TBX3 were set to
Progressive cardiac conduction disease v1.35 KCNK17 Ivone Leong Phenotypes for gene: KCNK17 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.34 KCNK17 Ivone Leong Publications for gene: KCNK17 were set to
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.32 GJA5 Ivone Leong Publications for gene: GJA5 were set to
Progressive cardiac conduction disease v1.31 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.29 ANK2 Ivone Leong Publications for gene: ANK2 were set to
Progressive cardiac conduction disease v1.28 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Heart conduction disease, MONDO:0000992
Iron metabolism disorders v1.6 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin to Protoporphyria, erythropoietic, X-linked OMIM:300752; Anemia, sideroblastic, 1 OMIM:300751; X-linked erythropoietic protoporphyria MONDO:0010420; X-linked sideroblastic anemia 1 MONDO:0020721
Progressive cardiac conduction disease v1.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559 to Progressive familial heart block, type IB, OMIM:604559
Progressive cardiac conduction disease v1.26 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725; 29748318; 30021168
Progressive cardiac conduction disease v1.25 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome 142900 to Holt-Oram syndrome, OMIM:142900
Progressive cardiac conduction disease v1.24 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838
Progressive cardiac conduction disease v1.23 CLCA2 Ivone Leong Phenotypes for gene: CLCA2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.22 TTR Ivone Leong Phenotypes for gene: TTR were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.21 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117
Progressive cardiac conduction disease v1.20 TNNI3K Ivone Leong Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVE
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE; Lenegre-Lev disease; Heart block, progressive, type IA; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PROGRESSIVE FAMILIAL HEART BLOCK (113900) to Heart block, progressive, OMIM:113900; Heart block, progressive, type IA, OMIM:113900
Progressive cardiac conduction disease v1.18 SCN5A Ivone Leong Publications for gene: SCN5A were set to
Progressive cardiac conduction disease v1.17 PRKAG2 Ivone Leong Phenotypes for gene: PRKAG2 were changed from Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects to Wolff-Parkinson-White syndrome, OMIM:194200
Progressive cardiac conduction disease v1.16 PRKAG2 Ivone Leong Publications for gene: PRKAG2 were set to
Progressive cardiac conduction disease v1.15 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from Atrial septal defect 7, with or without AV conduction defects 108900 to Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Progressive cardiac conduction disease v1.14 DES Ivone Leong Publications for gene: DES were set to
Progressive cardiac conduction disease v1.13 LMNA Ivone Leong Publications for gene: LMNA were set to
Progressive cardiac conduction disease v1.12 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from Laminopathy-associated AV conduction block to Laminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Brugada syndrome 8 613123
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Brugada syndrome 8 613123; Sick sinus syndrome 2 163800 to Sick sinus syndrome 2, OMIM:163800
Progressive cardiac conduction disease v1.10 GLA Ivone Leong Phenotypes for gene: GLA were changed from Fabry disease, cardiac variant, 301500 to Fabry disease, cardiac variant, OMIM:301500
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 to Heart conduction disease, MONDO:0000992
Mitochondrial disorders v2.20 APOO Arina Puzriakova gene: APOO was added
gene: APOO was added to Mitochondrial disorders. Sources: Literature
Skewed X-inactivation tags were added to gene: APOO.
Mode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to RED
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Progressive cardiac conduction disease v1.8 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.7 DES Ivone Leong Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Glycogen storage disease v1.6 RBCK1 Sarah Leigh Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Glycogen storage disease v1.5 RBCK1 Sarah Leigh edited their review of gene: RBCK1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.; Changed rating: GREEN
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Tag Q2_21_rating tag was added to gene: RBCK1.
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Classified gene: RBCK1 as Amber List (moderate evidence)
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Gene: rbck1 has been classified as Amber List (Moderate Evidence).
Familial hypercholesterolaemia - targeted panel v1.8 PCSK9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with {Low density lipoprotein cholesterol level QTL 1}, 603776
Familial hypercholesterolaemia - targeted panel v1.8 PCSK9 Ivone Leong Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3, 603776; Familial Hypercholesterolaemia; Hypercholesterolemia; {Low density lipoprotein cholesterol level QTL 1}, 603776; Familial Hypercholesterolemia to Hypercholesterolemia, familial, 3, OMIM:603776
Familial hypercholesterolaemia - targeted panel v1.7 LDLRAP1 Ivone Leong Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, 4, OMIM:603813
Familial hypercholesterolaemia - targeted panel v1.6 LDLR Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with LDL cholesterol level QTL2, 143890
Familial hypercholesterolaemia - targeted panel v1.6 LDLR Ivone Leong Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial to Hypercholesterolemia, familial, 1, OMIM:143890
Familial hypercholesterolaemia - targeted panel v1.5 APOE Ivone Leong Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347 to Hyperlipoproteinemia, type III, OMIM:617347
Familial hypercholesterolaemia - targeted panel v1.4 APOB Ivone Leong Phenotypes for gene: APOB were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia, familial, 2, 144010; Hypercholesterolemia to Hypercholesterolemia, familial, 2, OMIM:144010
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Short QT syndrome 3, OMIM:609622, Short QT syndrome type 3, MONDO:0012314, Atrial fibrillation, familial, 9, OMIM:613980, Atrial fibrillation, familial, 9, MONDO:0013513, Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.17 KCNE1 Ivone Leong Phenotypes for gene: KCNE1 were changed from Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.16 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from catecholaminergic polymorphic ventricular tachycardia to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.15 TECRL Ivone Leong Phenotypes for gene: TECRL were changed from Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 to Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021
Catecholaminergic polymorphic VT v2.14 TRDN Ivone Leong Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441); catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 2 (600996)
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 1; Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Arrhythmogenic right ventricular dysplasia 2 (600996); Catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
Catecholaminergic polymorphic VT v2.12 CASQ2 Ivone Leong Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Ventricular tachycardia, catecholaminergic polymorphic, 2 to Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 16,618782
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Phenotypes for gene: CALM3 were changed from ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782 to ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 15, 616249
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Phenotypes for gene: CALM2 were changed from Long QT syndrome 15, 616249 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.9 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) to Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 14 (616247)
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Brugada syndrome v2.33 KCNJ8 Ivone Leong Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.32 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119) to ?Brugada syndrome 6, OMIM:613119
Brugada syndrome v2.31 CAV3 Ivone Leong Phenotypes for gene: CAV3 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.30 CACNA2D1 Ivone Leong Phenotypes for gene: CACNA2D1 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.29 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.28 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.27 TRPM4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Progressive familial heart block, type IB 604559
Brugada syndrome v2.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559; Progressive familial heart block, type IB (604559) to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.26 SLMAP Ivone Leong Phenotypes for gene: SLMAP were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.25 SCN3B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 16 (613120)
Brugada syndrome v2.25 SCN3B Ivone Leong Phenotypes for gene: SCN3B were changed from Brugada syndrome 7; Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) to Brugada syndrome 7, OMIM:613120
Brugada syndrome v2.24 SCN2B Ivone Leong Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.23 SCN1B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac conduction defect, nonspecific (612838), Atrial fibrillation, familial, 13 (615377), Epileptic encephalopathy, early infantile, 52 (617350), Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Brugada syndrome v2.23 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5; Brugada syndrome 5 (612838); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) to Brugada syndrome 5, OMIM:612838
Brugada syndrome v2.22 SCN10A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Episodic pain syndrome, familial, 2 (615551)
Brugada syndrome v2.22 SCN10A Ivone Leong Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 (615551) to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.21 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.20 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome, MONDO:0015263
Brugada syndrome v2.19 PKP2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy
Brugada syndrome v2.19 PKP2 Ivone Leong Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (609040); Brugada syndrome; Arrhythmogenic right ventricular cardiomyopathy ; Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.18 KCNE5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with atrial fibrillation
Brugada syndrome v2.18 KCNE5 Ivone Leong Phenotypes for gene: KCNE5 were changed from atrial fibrillation; Brugada syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.17 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119); Brugada syndrome 6 to ?Brugada syndrome 6 (613119)
Brugada syndrome v2.16 KCND3 Ivone Leong Phenotypes for gene: KCND3 were changed from Brugada/Brugada like syndrome to Brugada syndrome 9, OMIM:616399
Brugada syndrome v2.15 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777) to Brugada syndrome 2, OMIM:611777
Brugada syndrome v2.14 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Sick sinus syndrome 2 (163800)
Brugada syndrome v2.14 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Sick sinus syndrome 2 (163800); Brugada syndrome 8; Brugada syndrome 8 (613123) to Brugada syndrome 8, OMIM:613123
Brugada syndrome v2.13 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777); Brugada syndrome 2 to Brugada syndrome 2 (611777)
Brugada syndrome v2.12 DLG1 Ivone Leong Phenotypes for gene: DLG1 were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.11 CACNB2 Ivone Leong Phenotypes for gene: CACNB2 were changed from Brugada syndrome 4; Brugada syndrome 4 (611876) to Brugada syndrome 4 (611876)
Brugada syndrome v2.10 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 to Brugada syndrome 3, MONDO:0012742
Brugada syndrome v2.9 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919)
Brugada syndrome v2.9 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Long QT syndrome 4 (600919); Cardiac arrhythmia, ankyrin-B-related (600919); Brugada/Brugada like syndrome to Brugada/Brugada like syndrome
Brugada syndrome v2.8 ABCC9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiomyopathy, dilated, 1O (608569), Atrial fibrillation, familial, 12 (614050) and Dilated cardiomyopathy
Brugada syndrome v2.8 ABCC9 Ivone Leong Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O (608569); Brugada syndrome; Atrial fibrillation, familial, 12 (614050); Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Intellectual disability v3.970 SETD1B Arina Puzriakova Publications for gene: SETD1B were set to 29322246; 27106595; 25428890; 31110234
Intellectual disability v3.969 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Severe Paediatric Disorders v1.65 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Genetic epilepsy syndromes v2.305 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Genetic epilepsy syndromes v2.304 SETD1B Arina Puzriakova Publications for gene: SETD1B were set to 20648245; 27106595; 25428890; 22369279; 29322246; 31440728; 31685013
Rare anaemia v1.18 C15orf41 Arina Puzriakova Publications for gene: C15orf41 were set to 23716552; 29031773; 29885034
Cytopenias and congenital anaemias v1.83 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Severe Paediatric Disorders v1.64 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Rare anaemia v1.17 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital dyserythropoietic anaemia type 1b; 615631 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Severe Paediatric Disorders v1.63 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia, 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Rare anaemia v1.16 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 16098079; 12434312
Rare anaemia v1.15 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Congenital dyserythropoietic anaemia type 1a to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Iron metabolism disorders v1.5 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Cytopenias and congenital anaemias v1.82 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 12434312
Cytopenias and congenital anaemias v1.81 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.630 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type I 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.629 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to
Fetal anomalies v1.628 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30786798, 29668551, 29599085; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, OMIM:224120, Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Classified gene: CDAN1 as Green List (high evidence)
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Added comment: Comment on list classification: Fetal-onset congenital dyserythropoietic anemia type 1 due to biallelic CDAN1 variants can present in utero with hydrops fetalis. Sufficient cases to ascertain causation.
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Gene: cdan1 has been classified as Green List (High Evidence).
Fetal hydrops v1.24 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Genomic imprinting v0.94 TBX5 Sarah Leigh Added comment: Comment on mode of inheritance: There would appear to be no evidence that this gene is imprinted.
Genomic imprinting v0.94 TBX5 Sarah Leigh Mode of inheritance for gene: TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome v2.7 KCNH2 Ivone Leong Added comment: Comment on phenotypes: KCNH2 is also associated with Long QT syndrome 2, OMIM:613688 and Short QT syndrome 1, OMIM:609620
Brugada syndrome v2.7 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 to Brugada/Brugada like syndrome
Brugada syndrome v2.6 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from Brugada syndrome 1, 601144; MONDO_0015263 to Brugada syndrome 1, 601144; Brugada syndrome 1, MONDO:0011001
Lipoprotein lipase deficiency v1.4 APOB Julie Evans commented on gene: APOB
Optic neuropathy v2.38 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from Optic atrophy 9; 616289; optic atrophy, nystagmus; Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802; ?Optic atrophy 9, OMIM:616289; Optic atrophy 9, MONDO:0014571
Intellectual disability v3.968 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Ataxia and cerebellar anomalies - narrow panel v2.54 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, MIM#614559 to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Ataxia and cerebellar anomalies - narrow panel v2.53 ACO2 Arina Puzriakova Publications for gene: ACO2 were set to 32519519
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACO2.
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Classified gene: ACO2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene should be promoted to Green at the next GMS panel update.

Sufficient unrelated cases to ascertain causation (see publications list). Childhood-onset ataxia often reported as a core feature of the disease presentation, particularly in milder cases. Both episodic and classic forms have been described.
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Gene: aco2 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.32 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190
Disorders of sex development v2.31 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190; 2238701
Disorders of sex development v2.30 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190
Ataxia and cerebellar anomalies - narrow panel v2.51 THG1L Arina Puzriakova Tag watchlist tag was added to gene: THG1L.
Ataxia and cerebellar anomalies - narrow panel v2.51 THG1L Arina Puzriakova Phenotypes for gene: THG1L were changed from Cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Spinocerebellar ataxia, autosomal recessive 28, MONDO:0032923
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Classified gene: THG1L as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Added comment: Comment on list classification: Ataxia only reported in 3 Ashkenazi Jewish families with the same p.V55A founder variant. Unclear whether the fourth case with a different variant (p.L294P) displayed ataxia. Therefore, additional cases or functional analysis of the p.V55A variant are required prior to upgrading this gene to Green.
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Gene: thg1l has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.49 THG1L Arina Puzriakova reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 27307223, 31168944, 30214071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v2.29 FGFR2 Ivone Leong Phenotypes for gene: FGFR2 were changed from LADD syndrome 149730; Bent bone dysplasia syndrome 614592 to LADD syndrome, OMIM:149730; Bent bone dysplasia syndrome, OMIM:614592
Disorders of sex development v2.28 GATA4 Ivone Leong Tag Q2_21_rating tag was added to gene: GATA4.
Disorders of sex development v2.28 GATA4 Ivone Leong Classified gene: GATA4 as Amber List (moderate evidence)
Disorders of sex development v2.28 GATA4 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Disorders of sex development v2.28 GATA4 Ivone Leong Gene: gata4 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.27 GATA4 Ivone Leong Publications for gene: GATA4 were set to 21220346
Disorders of sex development v2.26 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from ?Testicular anomalies with or without congenital heart disease 615542 to ?Testicular anomalies with or without congenital heart disease, OMIM:615542
Disorders of sex development v2.25 HOXA13 Ivone Leong Classified gene: HOXA13 as Amber List (moderate evidence)
Disorders of sex development v2.25 HOXA13 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Disorders of sex development v2.25 HOXA13 Ivone Leong Gene: hoxa13 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.24 HOXA13 Ivone Leong Tag Q2_21_rating tag was added to gene: HOXA13.
Disorders of sex development v2.24 HOXA13 Ivone Leong Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, OMIM:140000
Disorders of sex development v2.23 PAX8 Ivone Leong Classified gene: PAX8 as Amber List (moderate evidence)
Disorders of sex development v2.23 PAX8 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating as more evidence is required to support a gene-disease association.
Disorders of sex development v2.23 PAX8 Ivone Leong Gene: pax8 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.22 PAX8 Ivone Leong Tag watchlist tag was added to gene: PAX8.
Disorders of sex development v2.22 PAX8 Ivone Leong Added comment: Comment on publications: PMID: 25484916 describes a case of a patient with MRKH and hypothyroidism with a de novo deletion of 2q13-14.2 region (includes PAX8).

PMID: 31731040 describes a second case of a patient with MRKH and congenital thyroid gland hypoplasia with a de novo interstitial 2q12.1q14.1 deletion (the region includes PAX8).

In both PMID: 25484916 and 31731040, the authors theorise that PAX8 may be responsible.
Disorders of sex development v2.22 PAX8 Ivone Leong Publications for gene: PAX8 were set to 33434492
Disorders of sex development v2.21 PAX8 Ivone Leong Phenotypes for gene: PAX8 were changed from Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771
Disorders of sex development v2.20 PBX1 Ivone Leong Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; 46,XY partial gonadal dysgenesis, MONDO:0016674
Disorders of sex development v2.19 PBX1 Ivone Leong Tag watchlist tag was added to gene: PBX1.
Disorders of sex development v2.19 PBX1 Ivone Leong Classified gene: PBX1 as Amber List (moderate evidence)
Disorders of sex development v2.19 PBX1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association, this gene has been given an Amber rating.
Disorders of sex development v2.19 PBX1 Ivone Leong Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including progressive cerebellar ataxia (PMID: 31855247)
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence)
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including optic nerve atrophy (PMID: 31855247).
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v2.36 SLC44A1 Arina Puzriakova gene: SLC44A1 was added
gene: SLC44A1 was added to Optic neuropathy. Sources: Literature
Q2_21_rating tags were added to gene: SLC44A1.
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868; Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
Review for gene: SLC44A1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM (MIM# 618868), but not yet in Gene2Phenotype.

- PMID: 31855247 (2020) - Four individuals from three families with different homozygous frameshift variants (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in SLC44A1. Clinical features in all affected individuals included progressive ataxia, tremor, cognitive decline, bilateral optic nerve atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrated cerebellar atrophy and leukoencephalopathy. Functional studies indicate choline transporter deficiency as the underlying pathological mechanism.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.48 SLC44A1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC44A1.
Ataxia and cerebellar anomalies - narrow panel v2.48 SLC44A1 Arina Puzriakova reviewed gene: SLC44A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31855247; Phenotypes: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v2.18 NR2F2 Ivone Leong Tag Q2_21_rating tag was added to gene: NR2F2.
Disorders of sex development v2.18 NR2F2 Ivone Leong Classified gene: NR2F2 as Amber List (moderate evidence)
Disorders of sex development v2.18 NR2F2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be Green at the next review.
Disorders of sex development v2.18 NR2F2 Ivone Leong Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.17 NR2F2 Ivone Leong Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46,XX sex reversal 5, OMIM:618901; 46,XX sex reversal 5, MONDO:0030049
Primary immunodeficiency v2.402 RHOG Arina Puzriakova Classified gene: RHOG as Red List (low evidence)
Primary immunodeficiency v2.402 RHOG Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case reported at present (PMID: 33513601). Relevant phenotype and some supportive functional data included.
Primary immunodeficiency v2.402 RHOG Arina Puzriakova Gene: rhog has been classified as Red List (Low Evidence).
Limb disorders v2.38 KCNN3 Arina Puzriakova Classified gene: KCNN3 as Amber List (moderate evidence)
Limb disorders v2.38 KCNN3 Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update - sufficient unrelated cases to establish causation. Mild end of the radial ray spectrum from reports to date, however included.
Limb disorders v2.38 KCNN3 Arina Puzriakova Gene: kcnn3 has been classified as Amber List (Moderate Evidence).
Limb disorders v2.37 KCNN3 Arina Puzriakova gene: KCNN3 was added
gene: KCNN3 was added to Limb disorders. Sources: Literature
Q2_21_rating tags were added to gene: KCNN3.
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to 31155282; 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658; Zimmermann-laband syndrome 3, MONDO:0032854
Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KCNN3 was set to GREEN
Added comment: Associated with 'Zimmermann-Laband syndrome' in OMIM (MIM# 618658) and Gene2Phenotype ('probable' disease confidence rating).

At least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia and hypertrichosis. Radial ray defects mostly within the milder end of the spectrum but do include hypoplasia of the terminal phalanges and aplasia/hypoplasia of nails on hands and feet.
Sources: Literature
Intellectual disability v3.967 KCNN3 Arina Puzriakova Publications for gene: KCNN3 were set to 31155282
Intellectual disability v3.966 KCNN3 Arina Puzriakova edited their review of gene: KCNN3: Added comment: Now at least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID.; Changed publications: 31155282, 33594261
Neurodegenerative disorders - adult onset v2.39 ISCA-37478-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37478-Loss.
Neurodegenerative disorders - adult onset v2.39 ISCA-37478-Gain Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37478-Gain.
Neurodegenerative disorders - adult onset v2.39 ISCA-37468-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37468-Loss.
Neurodegenerative disorders - adult onset v2.39 ISCA-37404-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37404-Loss.
Monogenic diabetes v2.4 ISCA-37432-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37432-Loss.
Intellectual disability v3.966 PPP2R2B_CAG Arina Puzriakova Tag curated_removed tag was added to STR: PPP2R2B_CAG.
Intellectual disability v3.966 CSTB_CCCCGCCCCGCG Arina Puzriakova Tag curated_removed tag was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability v3.966 C9orf72_GGGGCC Arina Puzriakova Tag curated_removed tag was added to STR: C9orf72_GGGGCC.
Intellectual disability v3.966 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Undiagnosed metabolic disorders v1.447 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Intellectual disability v3.966 ATXN3_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN3_CAG.
Intellectual disability v3.966 ATXN1_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN1_CAG.
Intellectual disability v3.966 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy - teen and adult v2.16 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hereditary neuropathy v1.383 NOP56_GGCCTGTT Arina Puzriakova Tag STR tag was added to STR: NOP56_GGCCTGTT.
Tag curated_removed tag was added to STR: NOP56_GGCCTGTT.
Hereditary ataxia v1.211 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Primary ovarian insufficiency v1.19 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Intellectual disability v3.966 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Skeletal dysplasia v2.83 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Thoracic dystrophies v1.12 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Early onset dystonia v1.86 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Intellectual disability v3.966 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.29 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Adult onset movement disorder v1.20 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary ataxia - adult onset v2.25 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Neurodegenerative disorders - adult onset v2.39 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary spastic paraplegia - adult onset v1.16 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary spastic paraplegia - childhood onset v2.28 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Structural basal ganglia disorders v1.18 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Ataxia and cerebellar anomalies - narrow panel v2.48 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Brain channelopathy v1.59 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Sudden death in young people v1.15 TMPO Arina Puzriakova Tag curated_removed tag was added to gene: TMPO.
Sudden death in young people v1.15 SLC25A4 Arina Puzriakova Tag curated_removed tag was added to gene: SLC25A4.
Sudden death in young people v1.15 SCN4B Arina Puzriakova Tag curated_removed tag was added to gene: SCN4B.
Sudden death in young people v1.15 RYR2 Arina Puzriakova Tag curated_removed tag was added to gene: RYR2.
Sudden death in young people v1.15 NKX2-5 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-5.
Sudden death in young people v1.15 MYLK2 Arina Puzriakova Tag curated_removed tag was added to gene: MYLK2.
Sudden death in young people v1.15 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Sudden death in young people v1.15 MT-ND1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND1.
Sudden death in young people v1.15 MT-CYB Arina Puzriakova Tag curated_removed tag was added to gene: MT-CYB.
Sudden death in young people v1.15 IL6 Arina Puzriakova Tag curated_removed tag was added to gene: IL6.
Sudden death in young people v1.15 IL10 Arina Puzriakova Tag curated_removed tag was added to gene: IL10.
Sudden death in young people v1.15 FEV Arina Puzriakova Tag curated_removed tag was added to gene: FEV.
Sudden death in young people v1.15 CTNNA3 Arina Puzriakova Tag curated_removed tag was added to gene: CTNNA3.
Sudden death in young people v1.15 CAV3 Arina Puzriakova Tag curated_removed tag was added to gene: CAV3.
Sudden death in young people v1.15 AQP4 Arina Puzriakova Tag curated_removed tag was added to gene: AQP4.
Sudden death in young people v1.15 AKAP9 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP9.
Sudden death in young people v1.15 AKAP10 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP10.
Sudden death in young people v1.15 ACADM Arina Puzriakova Tag curated_removed tag was added to gene: ACADM.
Sudden death in young people v1.15 AARS2 Arina Puzriakova Tag curated_removed tag was added to gene: AARS2.
Rare multisystem ciliopathy disorders v1.139 ATD Arina Puzriakova Tag curated_removed tag was added to gene: ATD.
Primary ovarian insufficiency v1.19 BMPR1B-AS1 Arina Puzriakova Tag curated_removed tag was added to gene: BMPR1B-AS1.
Primary ciliary disorders v1.29 ATXN10 Arina Puzriakova Tag curated_removed tag was added to gene: ATXN10.
Parkinson Disease and Complex Parkinsonism v1.69 EPHB4 Arina Puzriakova Tag curated_removed tag was added to gene: EPHB4.
Ocular coloboma v1.42 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Ocular and oculo-cutaneous albinism v1.21 OCA5 Arina Puzriakova Tag curated_removed tag was added to gene: OCA5.
Multi-organ autoimmune diabetes v1.8 ZFP57 Arina Puzriakova Tag curated_removed tag was added to gene: ZFP57.
Multi-organ autoimmune diabetes v1.8 WFS1 Arina Puzriakova Tag curated_removed tag was added to gene: WFS1.
Multi-organ autoimmune diabetes v1.8 SLC2A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC2A2.
Multi-organ autoimmune diabetes v1.8 SLC19A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC19A2.
Multi-organ autoimmune diabetes v1.8 RFX6 Arina Puzriakova Tag curated_removed tag was added to gene: RFX6.
Multi-organ autoimmune diabetes v1.8 PTF1A Arina Puzriakova Tag curated_removed tag was added to gene: PTF1A.
Multi-organ autoimmune diabetes v1.8 PPARG Arina Puzriakova Tag curated_removed tag was added to gene: PPARG.
Multi-organ autoimmune diabetes v1.8 PDX1 Arina Puzriakova Tag curated_removed tag was added to gene: PDX1.
Multi-organ autoimmune diabetes v1.8 PAX4 Arina Puzriakova Tag curated_removed tag was added to gene: PAX4.
Multi-organ autoimmune diabetes v1.8 NKX2-2 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-2.
Multi-organ autoimmune diabetes v1.8 NEUROG3 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROG3.
Multi-organ autoimmune diabetes v1.8 NEUROD1 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROD1.
Multi-organ autoimmune diabetes v1.8 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Multi-organ autoimmune diabetes v1.8 MNX1 Arina Puzriakova Tag curated_removed tag was added to gene: MNX1.
Multi-organ autoimmune diabetes v1.8 LMNA Arina Puzriakova Tag curated_removed tag was added to gene: LMNA.
Multi-organ autoimmune diabetes v1.8 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Multi-organ autoimmune diabetes v1.8 KLF11 Arina Puzriakova Tag curated_removed tag was added to gene: KLF11.
Multi-organ autoimmune diabetes v1.8 KCNJ11 Arina Puzriakova Tag curated_removed tag was added to gene: KCNJ11.
Multi-organ autoimmune diabetes v1.8 INSR Arina Puzriakova Tag curated_removed tag was added to gene: INSR.
Multi-organ autoimmune diabetes v1.8 INS Arina Puzriakova Tag curated_removed tag was added to gene: INS.
Multi-organ autoimmune diabetes v1.8 IER3IP1 Arina Puzriakova Tag curated_removed tag was added to gene: IER3IP1.
Multi-organ autoimmune diabetes v1.8 HNF4A Arina Puzriakova Tag curated_removed tag was added to gene: HNF4A.
Multi-organ autoimmune diabetes v1.8 HNF1B Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B.
Multi-organ autoimmune diabetes v1.8 HNF1A Arina Puzriakova Tag curated_removed tag was added to gene: HNF1A.
Multi-organ autoimmune diabetes v1.8 GLIS3 Arina Puzriakova Tag curated_removed tag was added to gene: GLIS3.
Multi-organ autoimmune diabetes v1.8 GCK Arina Puzriakova Tag curated_removed tag was added to gene: GCK.
Multi-organ autoimmune diabetes v1.8 GATA6 Arina Puzriakova Tag curated_removed tag was added to gene: GATA6.
Multi-organ autoimmune diabetes v1.8 GATA4 Arina Puzriakova Tag curated_removed tag was added to gene: GATA4.
Multi-organ autoimmune diabetes v1.8 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Multi-organ autoimmune diabetes v1.8 EIF2AK3 Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3.
Multi-organ autoimmune diabetes v1.8 CEL Arina Puzriakova Tag curated_removed tag was added to gene: CEL.
Multi-organ autoimmune diabetes v1.8 BLK Arina Puzriakova Tag curated_removed tag was added to gene: BLK.
Multi-organ autoimmune diabetes v1.8 AVPR2 Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
Multi-organ autoimmune diabetes v1.8 AVP Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
Multi-organ autoimmune diabetes v1.8 AQP2 Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
Multi-organ autoimmune diabetes v1.8 AKT2 Arina Puzriakova Tag curated_removed tag was added to gene: AKT2.
Multi-organ autoimmune diabetes v1.8 ABCC8 Arina Puzriakova Tag curated_removed tag was added to gene: ABCC8.
Hereditary spastic paraplegia v1.219 SPG41 Arina Puzriakova Tag curated_removed tag was added to gene: SPG41.
Hereditary spastic paraplegia v1.219 SPG38 Arina Puzriakova Tag curated_removed tag was added to gene: SPG38.
Hereditary spastic paraplegia v1.219 SPG37 Arina Puzriakova Tag curated_removed tag was added to gene: SPG37.
Hereditary spastic paraplegia v1.219 SPG36 Arina Puzriakova Tag curated_removed tag was added to gene: SPG36.
Hereditary spastic paraplegia v1.219 SPG34 Arina Puzriakova Tag curated_removed tag was added to gene: SPG34.
Hereditary spastic paraplegia v1.219 SPG32 Arina Puzriakova Tag curated_removed tag was added to gene: SPG32.
Hereditary spastic paraplegia v1.219 SPG29 Arina Puzriakova Tag curated_removed tag was added to gene: SPG29.
Hereditary spastic paraplegia v1.219 SPG27 Arina Puzriakova Tag curated_removed tag was added to gene: SPG27.
Hereditary spastic paraplegia v1.219 SPG25 Arina Puzriakova Tag curated_removed tag was added to gene: SPG25.
Hereditary spastic paraplegia v1.219 SPG24 Arina Puzriakova Tag curated_removed tag was added to gene: SPG24.
Hereditary spastic paraplegia v1.219 SPG23 Arina Puzriakova Tag curated_removed tag was added to gene: SPG23.
Hereditary spastic paraplegia v1.219 SPG19 Arina Puzriakova Tag curated_removed tag was added to gene: SPG19.
Hereditary spastic paraplegia v1.219 SPG16 Arina Puzriakova Tag curated_removed tag was added to gene: SPG16.
Hereditary spastic paraplegia v1.219 SPG14 Arina Puzriakova Tag curated_removed tag was added to gene: SPG14.
Genomic imprinting v0.93 TBX5 Arina Puzriakova Tag curated_removed tag was added to gene: TBX5.
Familial Neural Tube Defects v1.10 HPE1 Arina Puzriakova Tag curated_removed tag was added to gene: HPE1.
Familial diabetes v1.59 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Familial cicatricial alopecia v1.2 GJA1 Arina Puzriakova Tag curated_removed tag was added to gene: GJA1.
Familial cicatricial alopecia v1.2 FOXN1 Arina Puzriakova Tag curated_removed tag was added to gene: FOXN1.
Ductal plate malformation v1.16 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Ductal plate malformation v1.16 WDR34 Arina Puzriakova Tag curated_removed tag was added to gene: WDR34.
Ductal plate malformation v1.16 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Ductal plate malformation v1.16 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Ductal plate malformation v1.16 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Ductal plate malformation v1.16 TTC21B Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B.
Ductal plate malformation v1.16 TMEM237 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237.
Ductal plate malformation v1.16 TMEM231 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231.
Ductal plate malformation v1.16<