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Hypertrophic cardiomyopathy v2.16 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883
Hypertrophic cardiomyopathy v2.1 FLNC Louise Daugherty Tag watchlist was removed from gene: FLNC.
Hypertrophic cardiomyopathy v2.1 FLNC Louise Daugherty commented on gene: FLNC
Hypertrophic cardiomyopathy v1.82 FLNC Ivone Leong Publications for gene: FLNC were set to 25351925; 28356264; 30411535
Hypertrophic cardiomyopathy v1.81 FLNC Ivone Leong edited their review of gene: FLNC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.74 FLNC James Eden reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 28356264; Phenotypes: Cardiomyopathy, familial hypertrophic, 26, Cardiomyopathy, familial restrictive 5 (617047), Myopathy, distal, 4 (614065), Myopathy, myofibrillar, 5 (609524); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Classified gene: FLNC as Green List (high evidence)
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Gene: flnc has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.56 FLNC Matthew Edwards reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 28356264, 25351925; Phenotypes: arrythmogenic cardiomyopathy, Cardiomyopathy, familial hypertrophic, 26, Cardiomyopathy, familial restrictive 5, Myopathy, myofibrillar, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.53 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26 (102565)
Hypertrophic cardiomyopathy v1.52 FLNC Rebecca Whittington commented on gene: FLNC: 28369730: Strong evidence, but relatively high frequency of rare variants in population (3.2%). Further characterisation required. 28356264 Gomez 2016 (Circ Cardiovasc Genet. 2017;10:e001584. DOI: 10.1161/CIRCGENETICS.116.001584.) : 6 LP variants in 7 patients. Classification based on ACMG and segregation.
Hypertrophic cardiomyopathy v1.51 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Marked gene: FLNC as ready
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Tag watchlist tag was added to gene: FLNC.
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Added comment: Comment on list classification: After discussion at the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should be kept Amber and the 'watchlist' tag added for emerging phenotype data.
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.45 FLNC Ellen McDonagh Source South West GLH was added to FLNC.
Hypertrophic cardiomyopathy v1.30 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted this gene from Red to Amber for discussion with the NHS GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.28 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Amber gene. For discussion. High background rate of missense variants in reference popualtions in this gene; therefore rare missense variants detected in patients are .are generally uninterpretable and classified as VUS. Heterozygous LOF variants well-established and quite frequent in DCM however we have also found putative LOF variants in HCM patients although these are rare. Another gene where we need more data... ; Changed rating: AMBER; Changed publications: Publications supporting role of this gene in HCM - PMID:25351925, PMID:28356264, Publications questioning role of this gene in HCM - PMID:30411535; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 FLNC Ellen McDonagh Source Wessex and West Midlands GLH was added to FLNC.
Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted