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Arrhythmogenic right ventricular cardiomyopathy v2.18 RYR2 Matthew Edwards Deleted their review
Arrhythmogenic right ventricular cardiomyopathy v2.15 RYR2 Ivone Leong Tag for-review was removed from gene: RYR2.
Arrhythmogenic right ventricular cardiomyopathy v2.15 RYR2 Ivone Leong commented on gene: RYR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Arrhythmogenic right ventricular cardiomyopathy v2.14 RYR2 Ivone Leong Source Expert Review Red was added to RYR2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Arrhythmogenic right ventricular cardiomyopathy v2.7 RYR2 Ivone Leong commented on gene: RYR2: Have tagged with "for-review" for the next major review of the panel.
Arrhythmogenic right ventricular cardiomyopathy v2.7 RYR2 Ivone Leong Tag for-review tag was added to gene: RYR2.
Arrhythmogenic right ventricular cardiomyopathy v2.6 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: 11159936, 25041964, 29543670; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.45 RYR2 Ivone Leong reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.44 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.36 RYR2 James Eden reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25041964, 27761164; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic right ventricular cardiomyopathy v1.36 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.32 RYR2 Ivone Leong Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/; 19926015; 17875969
Arrhythmogenic right ventricular cardiomyopathy v1.31 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic right ventricular cardiomyopathy v1.30 RYR2 Ivone Leong Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Arrhythmogenic right ventricular cardiomyopathy v1.23 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic right ventricular cardiomyopathy v1.22 RYR2 Rebecca Whittington commented on gene: RYR2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for CPVT as considered to be the main gene. Reported C5 RYR2 assoc with short QT. Multiple variants on HGMD however pathogenicity downgraded to VUS: Pubmed: 28404607. Insufficient evidence to include.
Arrhythmogenic right ventricular cardiomyopathy v1.21 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.20 RYR2 Ellen McDonagh Tag deletions tag was added to gene: RYR2.
Arrhythmogenic right ventricular cardiomyopathy v1.20 RYR2 Ellen McDonagh Source South West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.19 RYR2 Ellen McDonagh reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.18 RYR2 Ellen McDonagh Source London South GLH was added to RYR2.
Arrhythmogenic right ventricular cardiomyopathy v1.15 RYR2 Anna de Burca reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:19926015, 17875969; Phenotypes: Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their review
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts.; Changed mode of pathogenicity: Other
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic right ventricular cardiomyopathy v1.12 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts. ; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.10 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.9 RYR2 Ellen McDonagh Source Wessex and West Midlands GLH was added to RYR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)