Dilated Cardiomyopathy and conduction defects
Gene: FLNC
Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 OMIM#617047; Myopathy, distal, 4 OMIM#614065; Myopathy, myofibrillar, 5 OMIM#609524Created: 25 Mar 2019, 4:30 p.m.
Literature: Begay 2016 2 Italian families with segregation of the same splice variant and a US family with a different splice variant segregating with disease. Western blotting supported evidence of pathogenicity.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from Red to Amber due to new review, to raise for discussion with the NHSE GMS Cardiology specialist group.Created: 17 Jan 2019, 5:44 p.m.
Originally given red rating. Now evidence from the literature and our cohort that truncating variants in this gene cause DCM.Created: 17 Jan 2019, 5:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Source South West GLH was added to FLNC. Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to
Gene: flnc has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to FLNC.
FLNC was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory
FLNC was created by ellenmcdonagh