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Arrhythmogenic cardiomyopathy v2.13 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524) to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883
Arrhythmogenic cardiomyopathy v2.6 FLNC Sarah Leigh Added comment: Comment on publications: PMID 31924696 reports two new trucating variants in cases of arrhythmogenic right ventricular cardiomyopathy.
Arrhythmogenic cardiomyopathy v2.6 FLNC Sarah Leigh Publications for gene: FLNC were set to 27908349; 26666891
Arrhythmogenic cardiomyopathy v1.47 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)
Arrhythmogenic cardiomyopathy v1.45 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.43 FLNC Ellen McDonagh Classified gene: FLNC as Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.43 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green based on two expert reviews and Definitive gene validity curation by ClinGen Expert Panel.
Arrhythmogenic cardiomyopathy v1.43 FLNC Ellen McDonagh Gene: flnc has been classified as Green List (High Evidence).
Arrhythmogenic cardiomyopathy v1.42 FLNC Ellen McDonagh Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.41 FLNC Ellen McDonagh Phenotypes for gene: FLNC were changed from to v
Arrhythmogenic cardiomyopathy v1.36 FLNC Ivone Leong Publications for gene: FLNC were set to 27908349
Arrhythmogenic cardiomyopathy v1.25 FLNC Matthew Edwards reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26666891; Phenotypes: Arrhythmogenic cardiomyopathy, Cardiomyopathy, familial restrictive 5 (OMIM:617047), Myopathy, distal, 4 (OMIM: 614065), Myopathy, myofibrillar, 5 (OMIM:609524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.20 FLNC Ellen McDonagh Marked gene: FLNC as ready
Arrhythmogenic cardiomyopathy v1.20 FLNC Ellen McDonagh Added comment: Comment when marking as ready: After discussion in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber until more evidence arises.
Arrhythmogenic cardiomyopathy v1.20 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic cardiomyopathy v1.14 FLNC Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic cardiomyopathy v1.14 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Arrhythmogenic cardiomyopathy v1.13 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Arrhythmogenic cardiomyopathy v1.13 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review. For discussion with the NHSE GMS cardiology specialist group.
Arrhythmogenic cardiomyopathy v1.13 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic cardiomyopathy v1.12 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: 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 cardiomyopathy v1.10 FLNC Oxford Medical Genetics Laboratory reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.9 FLNC Ellen McDonagh gene: FLNC was added
gene: FLNC was added to Arrhythmogenic cardiomyopathy. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLNC was set to