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Skeletal Muscle Channelopathies v1.27 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Hypokalemic Periodic Paralysis, Type 2; Episodic weakness; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis
Skeletal Muscle Channelopathies v1.26 HSPG2 Arina Puzriakova Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, OMIM:255800 to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
Skeletal Muscle Channelopathies v1.25 HSPG2 Arina Puzriakova Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 to Schwartz-Jampel syndrome, type 1, OMIM:255800
Skeletal Muscle Channelopathies v1.24 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v1.23 CNBP_CCTG Arina Puzriakova Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal Muscle Channelopathies v1.22 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal Muscle Channelopathies v1.21 KCNJ18 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: KCNJ18.
Skeletal Muscle Channelopathies v1.21 KCNJ18 Eleanor Williams commented on gene: KCNJ18
Skeletal Muscle Channelopathies v1.21 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG: As discussed in PanelApp team meeting a new tag "NGS Not Validated". This STR currently has not be validated within the Genomics England pipeline.
Skeletal Muscle Channelopathies v1.21 CNBP_CCTG Louise Daugherty Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Skeletal Muscle Channelopathies v1.21 SLC2A1 Louise Daugherty Classified gene: SLC2A1 as Green List (high evidence)
Skeletal Muscle Channelopathies v1.21 SLC2A1 Louise Daugherty Gene: slc2a1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.20 SLC2A1 Louise Daugherty gene: SLC2A1 was added
gene: SLC2A1 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 19630075; 26598494; 10980529
Phenotypes for gene: SLC2A1 were set to 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; myotonia; dystonia
Review for gene: SLC2A1 was set to GREEN
Added comment: added from review of the GMS myotonia congenita panel. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Sources: Expert list
Skeletal Muscle Channelopathies v1.19 ATP1A2 Louise Daugherty Classified gene: ATP1A2 as Green List (high evidence)
Skeletal Muscle Channelopathies v1.19 ATP1A2 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Skeletal Muscle Channelopathies v1.19 ATP1A2 Louise Daugherty Gene: atp1a2 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.18 ATP1A2 Louise Daugherty gene: ATP1A2 was added
gene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A2 were set to 30423015; 15286158; 18056581
Phenotypes for gene: ATP1A2 were set to Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis
Review for gene: ATP1A2 was set to GREEN
Added comment: added from review of the GMS myotonia congenita panel. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Sources: Expert list
Skeletal Muscle Channelopathies v1.17 KCNJ5 Louise Daugherty commented on gene: KCNJ5
Skeletal Muscle Channelopathies v1.17 KCNQ2 Louise Daugherty Classified gene: KCNQ2 as Red List (low evidence)
Skeletal Muscle Channelopathies v1.17 KCNQ2 Louise Daugherty Added comment: Comment on list classification: Downgraded from Amber to Red. This gene was not submitted as part of the GMS on the Myotonia congenita panel, it is also noted by reviewer Fowzan Alkuraya that they do not think the evidence linking this gene to the intended phenotype for this panel i.e. muscle channelopathy is compelling
Skeletal Muscle Channelopathies v1.17 KCNQ2 Louise Daugherty Gene: kcnq2 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v1.16 CACNB4 Louise Daugherty Classified gene: CACNB4 as Red List (low evidence)
Skeletal Muscle Channelopathies v1.16 CACNB4 Louise Daugherty Added comment: Comment on list classification: Downgraded from Amber to Red. This gene was not submitted as part of the GMS on the Myotonia congenita panel, it is also noted by reviewer Fowzan Alkuraya that they do not think the evidence linking this gene to the intended phenotype for this panel i.e. muscle channelopathy is compelling
Skeletal Muscle Channelopathies v1.16 CACNB4 Louise Daugherty Gene: cacnb4 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v1.15 CACNA1A Louise Daugherty Classified gene: CACNA1A as Green List (high evidence)
Skeletal Muscle Channelopathies v1.15 CACNA1A Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Since the original review in 2017 there has been more evidence to support variants of this gene resulting in a phenotype suitable for inclusion
Skeletal Muscle Channelopathies v1.15 CACNA1A Louise Daugherty Gene: cacna1a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.14 CACNA1A Louise Daugherty Added comment: Comment on publications: added publications suggested by external reviwer on Myotonia congenita panel for GMS, new publication in particular new publication March 2018 https://www.ncbi.nlm.nih.gov/pubmed/?term=29442233 gives evidence to support variants of this gene resulting in a phenotype suitable for inclusion, there is also reference to a mouse model here : https://www.ncbi.nlm.nih.gov/pubmed/?term=28688851
Skeletal Muscle Channelopathies v1.14 CACNA1A Louise Daugherty Publications for gene: CACNA1A were set to
Skeletal Muscle Channelopathies v1.13 CACNA1A Louise Daugherty Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty edited their review of STR: CNBP_CCTG: Changed rating: RED
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies v1.11 DMPK_CTG Arianna Tucci Deleted their comment
Skeletal Muscle Channelopathies v1.11 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Skeletal Muscle Channelopathies v1.11 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018
Skeletal Muscle Channelopathies v1.11 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.11 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Skeletal Muscle Channelopathies v1.11 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.10 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Skeletal Muscle Channelopathies v1.9 DMPK_CTG Arianna Tucci reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Skeletal Muscle Channelopathies CNBP Ellen McDonagh commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies DMPK Ellen McDonagh Added STR to panel
Skeletal Muscle Channelopathies CNBP Ellen McDonagh edited their review of STR: CNBP_CCTG
Skeletal Muscle Channelopathies CNBP Ellen McDonagh Added STR to panel
Skeletal Muscle Channelopathies Arianna Tucci promoted panel to version 1
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci marked KCNJ5 as ready
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci classified KCNJ5 as amber
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci marked KCNJ18 as ready
Skeletal Muscle Channelopathies HSPG2 Arianna Tucci marked HSPG2 as ready
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci marked KCNA1 as ready
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci commented on KCNA1
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci classified KCNA1 as green
Skeletal Muscle Channelopathies KCNQ2 Fowzan ALKURAYA reviewed KCNQ2
Skeletal Muscle Channelopathies DMPK Fowzan ALKURAYA reviewed DMPK
Skeletal Muscle Channelopathies CNBP Fowzan ALKURAYA reviewed CNBP
Skeletal Muscle Channelopathies ADCY5 Fowzan ALKURAYA reviewed ADCY5
Skeletal Muscle Channelopathies SLC1A3 Fowzan ALKURAYA reviewed SLC1A3
Skeletal Muscle Channelopathies KCNJ18 Fowzan ALKURAYA reviewed KCNJ18
Skeletal Muscle Channelopathies KCNA1 Fowzan ALKURAYA reviewed KCNA1
Skeletal Muscle Channelopathies CACNB4 Fowzan ALKURAYA reviewed CACNB4
Skeletal Muscle Channelopathies CACNA1A Fowzan ALKURAYA reviewed CACNA1A
Skeletal Muscle Channelopathies SCN4A Fowzan ALKURAYA reviewed SCN4A
Skeletal Muscle Channelopathies KCNJ2 Fowzan ALKURAYA reviewed KCNJ2
Skeletal Muscle Channelopathies CLCN1 Fowzan ALKURAYA reviewed CLCN1
Skeletal Muscle Channelopathies CACNA1S Fowzan ALKURAYA reviewed CACNA1S
Skeletal Muscle Channelopathies ATP2A1 Fowzan ALKURAYA reviewed ATP2A1
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci marked MT-ATP6 as ready
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci classified MT-ATP6 as green
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci marked MT-ATP8 as ready
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci classified MT-ATP8 as green
Skeletal Muscle Channelopathies PYGM Arianna Tucci marked PYGM as ready
Skeletal Muscle Channelopathies PYGM Arianna Tucci classified PYGM as green
Skeletal Muscle Channelopathies RYR1 Arianna Tucci marked RYR1 as ready
Skeletal Muscle Channelopathies RYR1 Arianna Tucci classified RYR1 as green
Skeletal Muscle Channelopathies PYGM Arianna Tucci added PYGM to panel
Skeletal Muscle Channelopathies PYGM Arianna Tucci reviewed PYGM
Skeletal Muscle Channelopathies RYR1 Arianna Tucci added RYR1 to panel
Skeletal Muscle Channelopathies RYR1 Arianna Tucci reviewed RYR1
Skeletal Muscle Channelopathies HSPG2 Arianna Tucci added HSPG2 to panel
Skeletal Muscle Channelopathies HSPG2 Arianna Tucci reviewed HSPG2
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci added MT-ATP8 to panel
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci reviewed MT-ATP8
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci added MT-ATP6 to panel
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci reviewed MT-ATP6
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci added KCNJ5 to panel
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci reviewed KCNJ5
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci classified KCNQ2 as amber
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci classified CACNB4 as amber
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci marked KCNJ18 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci commented on KCNJ18
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci classified KCNJ18 as red
Skeletal Muscle Channelopathies ADCY5 Arianna Tucci marked ADCY5 as ready
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci marked SLC1A3 as ready
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci commented on SLC1A3
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci classified SLC1A3 as green
Skeletal Muscle Channelopathies ADCY5 Arianna Tucci classified ADCY5 as green
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci classified CACNB4 as red
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci marked KCNA1 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci marked CACNA1A as ready
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci marked KCNQ2 as ready
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci commented on KCNQ2
Skeletal Muscle Channelopathies CNBP Arianna Tucci marked CNBP as ready
Skeletal Muscle Channelopathies CNBP Arianna Tucci marked CNBP as ready
Skeletal Muscle Channelopathies CNBP Arianna Tucci commented on CNBP
Skeletal Muscle Channelopathies ATP2A1 Arianna Tucci marked ATP2A1 as ready
Skeletal Muscle Channelopathies ATP2A1 Arianna Tucci classified ATP2A1 as green
Skeletal Muscle Channelopathies ADCY5 Arianna Tucci reviewed ADCY5
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci marked SLC1A3 as ready
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci marked SLC1A3 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci marked KCNJ18 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci classified KCNJ18 as amber
Skeletal Muscle Channelopathies SCN4A Arianna Tucci marked SCN4A as ready
Skeletal Muscle Channelopathies KCNJ2 Arianna Tucci marked KCNJ2 as ready
Skeletal Muscle Channelopathies KCNJ2 Arianna Tucci commented on KCNJ2
Skeletal Muscle Channelopathies DMPK Arianna Tucci marked DMPK as ready
Skeletal Muscle Channelopathies DMPK Arianna Tucci commented on DMPK
Skeletal Muscle Channelopathies DMPK Arianna Tucci classified DMPK as red
Skeletal Muscle Channelopathies CLCN1 Arianna Tucci marked CLCN1 as ready
Skeletal Muscle Channelopathies CLCN1 Arianna Tucci commented on CLCN1
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci marked CACNA1S as ready
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci classified CACNA1S as green
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci commented on CACNA1S
Skeletal Muscle Channelopathies CNBP Arianna Tucci reviewed CNBP
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci reviewed KCNQ2
Skeletal Muscle Channelopathies ATP2A1 Arianna Tucci reviewed ATP2A1
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci commented on KCNJ18
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci reviewed SLC1A3
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci commented on CACNB4
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci reviewed KCNA1
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci reviewed CACNB4
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci reviewed CACNA1A
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci reviewed KCNJ18
Skeletal Muscle Channelopathies SCN4A Arianna Tucci reviewed SCN4A
Skeletal Muscle Channelopathies KCNJ2 Arianna Tucci reviewed KCNJ2
Skeletal Muscle Channelopathies DMPK Arianna Tucci reviewed DMPK
Skeletal Muscle Channelopathies CLCN1 Arianna Tucci reviewed CLCN1
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci reviewed CACNA1S
Skeletal Muscle Channelopathies CNBP Alice Gardham classified CNBP as red
Skeletal Muscle Channelopathies CNBP Alice Gardham commented on CNBP