Dilated Cardiomyopathy and conduction defects
Gene: FLNCEnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 11 panels
3 reviews
Rebecca Whittington (South West GLH)
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
Ellen McDonagh (Genomics England Curator)
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.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
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
- Publications supporting role of truncating variants in this gene in DCM PMID: 29551499
- PMID: 28008423
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert Review Amber
- Wessex and West Midlands GLH
- Oxford Medical Genetics Laboratory
- Phenotypes
-
- 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
- OMIM
- 102565
- Clinvar variants
- Variants in FLNC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Progressive cardiac conduction disease
- Arthrogryposis
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Distal myopathies
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to FLNC. Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: FLNC were set to
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: flnc has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to FLNC.
Added New Source
Ellen McDonagh (Genomics England Curator)FLNC was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)FLNC was created by ellenmcdonagh