Dilated and arrhythmogenic cardiomyopathy
Gene: FLNC
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green as the group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
On Royal Brompton diagnostic panel, and pathogenic variants reported in phenotypes of arrythmogenic cardiomyopathy with fibrosis (LOF variants). Some good evidence of DCM association in literature. On basis of clinical overlap, this should be on DCM panels.
Sources: NHS GMS, LiteratureCreated: 19 Sep 2019, 11:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FLNC were changed from arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5 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 Expert Review Green was added to FLNC. Rating Changed from Red List (low evidence) to Green List (high evidence)
Gene: flnc has been classified as Red List (Low Evidence).
gene: FLNC was added gene: FLNC was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLNC were set to 30067491; 28008423 Phenotypes for gene: FLNC were set to arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5 Review for gene: FLNC was set to GREEN gene: FLNC was marked as current diagnostic