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Aniridia v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Aniridia v3.0 Ivone Leong promoted panel to version 3.0
Aniridia v2.15 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Aniridia v2.15 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Aniridia v2.14 PAX6 Arina Puzriakova Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642; 32467297
Aniridia v2.13 PAX6 Arina Puzriakova Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642
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
Aniridia v2.6 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Aniridia v2.5 FOXC1 Eleanor Williams Publications for gene: FOXC1 were set to 19279310; 25691405; 27124303
Aniridia v2.4 FOXC1 Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None
Aniridia v2.3 Catherine Snow Panel version has been signed off
Aniridia v2.0 Ivone Leong promoted panel to version 2.0
Aniridia v1.10 Ivone Leong List of related panels changed from to R38
Panel types changed to GMS Rare Disease; GMS signed-off
Aniridia v1.7 PAX6 Jonathan Callaway reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Aniridia v1.7 PAX6 Jonathan Callaway Deleted their review
Aniridia v1.7 PAX6 Jonathan Callaway reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: aniridia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aniridia v1.7 PITX2 Ivone Leong Publications for gene: PITX2 were set to
Aniridia v1.6 ITPR1 Ivone Leong Publications for gene: ITPR1 were set to
Aniridia v1.5 FOXC1 Ivone Leong Publications for gene: FOXC1 were set to
Aniridia v1.4 ITPR1 Morag Shanks reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27108797, 27108798; Phenotypes: Gillespie syndrome 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aniridia v1.4 PITX2 Morag Shanks reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21423868, 27124303; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aniridia v1.4 FOXC1 Morag Shanks reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19279310, 25691405, 27124303; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aniridia v1.4 TRIM44 Morag Shanks reviewed gene: TRIM44: Rating: RED; Mode of pathogenicity: ; Publications: 26394807; Phenotypes: ?Aniridia 3 617142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aniridia v1.4 ELP4 Morag Shanks reviewed gene: ELP4: Rating: RED; Mode of pathogenicity: ; Publications: 24290376; Phenotypes: ?Aniridia 2 617141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Aniridia v1.4 PAX6 Morag Shanks reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 1302030, 8111379, 7951315, 7666404, 7550230, 19876904, 9931324, 12552561, 11826019?, 11553050, 17148041, 17595013, 17406642; Phenotypes: Aniridia 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Aniridia v1.3 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142; ?Aniridia 3 617142 to ?Aniridia 3, 617142
Aniridia v1.2 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141; ?Aniridia 2 617141 to ?Aniridia 2, 617141
Aniridia v1.1 ITPR1 Ivone Leong gene: ITPR1 was added
gene: ITPR1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700
Aniridia v1.1 PITX2 Ivone Leong gene: PITX2 was added
gene: PITX2 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Amber
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aniridia v1.1 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aniridia v1.1 TRIM44 Ivone Leong Source Wessex and West Midlands GLH was added to TRIM44.
Added phenotypes ?Aniridia 3 617142 for gene: TRIM44
Aniridia v1.1 ELP4 Ivone Leong Source Wessex and West Midlands GLH was added to ELP4.
Mode of inheritance for gene ELP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Aniridia 2 617141 for gene: ELP4
Aniridia v1.1 PAX6 Ivone Leong Source Wessex and West Midlands GLH was added to PAX6.
Added phenotypes Aniridia 106210 for gene: PAX6
Aniridia v1.0 Ellen McDonagh promoted panel to version 1.0
Aniridia v0.15 ISCA-37401-Loss Ivone Leong Marked Region: ISCA-37401-Loss as ready
Aniridia v0.15 ISCA-37401-Loss Ivone Leong Region: isca-37401-loss has been classified as Green List (High Evidence).
Aniridia v0.15 ISCA-37401-Loss Ivone Leong Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Aniridia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Aniridia v0.14 ELP4 Ivone Leong Marked gene: ELP4 as ready
Aniridia v0.14 ELP4 Ivone Leong Gene: elp4 has been classified as Red List (Low Evidence).
Aniridia v0.14 TRIM44 Ivone Leong Marked gene: TRIM44 as ready
Aniridia v0.14 TRIM44 Ivone Leong Gene: trim44 has been classified as Red List (Low Evidence).
Aniridia v0.14 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3 to ?Aniridia 3, 617142
Aniridia v0.13 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2 to ?Aniridia 2, 617141
Aniridia v0.12 PAX6 Ellen McDonagh Marked gene: PAX6 as ready
Aniridia v0.12 PAX6 Ellen McDonagh Gene: pax6 has been classified as Green List (High Evidence).
Aniridia v0.12 PAX6 Ellen McDonagh Source Radboud University Medical Center, Nijmegen was added to PAX6.
Source Illumina TruGenome Clinical Sequencing Services was added to PAX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Aniridia v0.11 TRIM44 Ellen McDonagh Source Radboud University Medical Center, Nijmegen was added to TRIM44.
Aniridia v0.10 ELP4 Ellen McDonagh Source Radboud University Medical Center, Nijmegen was added to ELP4.
Aniridia v0.9 TRIM44 Ellen McDonagh Publications for gene: TRIM44 were set to
Aniridia v0.8 ELP4 Ellen McDonagh Publications for gene: ELP4 were set to
Aniridia v0.7 PAX6 Ellen McDonagh Classified gene: PAX6 as Green List (high evidence)
Aniridia v0.7 PAX6 Ellen McDonagh Added comment: Comment on list classification: Loss of function or missense variants reported in this gene as causing Aniridia in more than 3 families (see publications).
Aniridia v0.7 PAX6 Ellen McDonagh Gene: pax6 has been classified as Green List (High Evidence).
Aniridia v0.6 PAX6 Ellen McDonagh Publications for gene: PAX6 were set to 1302030; 8111379; 7951315
Aniridia v0.5 PAX6 Ellen McDonagh Publications for gene: PAX6 were set to
Aniridia v0.4 TRIM44 Ellen McDonagh gene: TRIM44 was added
gene: TRIM44 was added to Aniridia. Sources: Other
Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRIM44 were set to ?Aniridia 3
Aniridia v0.3 ELP4 Ellen McDonagh gene: ELP4 was added
gene: ELP4 was added to Aniridia. Sources: Other
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELP4 were set to ?Aniridia 2
Aniridia v0.2 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Aniridia. Sources: UKGTN
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Aniridia 106210
Aniridia v0.0 Ellen McDonagh Added Panel Aniridia
Set panel types to: GMS Rare Disease