Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: FLNC

FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:23 a.m.

Comment on phenotypes: Also associated with Cardiomyopathy, familial hypertrophic, 26;
Cardiomyopathy, familial restrictive 5 617047;
Myopathy, distal, 4 614065

Created: 26 Jul 2016, 2:04 p.m.

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 1/4 sources. No reviewer comments. Literature report three unique variants in different patients (segregation demonstrated for one).
Created: 17 Jun 2016, 3:41 p.m.

Comment on publications: 17412757 relevant in vitro evidence, variant peptide was less stable, more susceptible to proteolysis compared to wildtype and did not dimerize correctly
Created: 17 Jun 2016, 1:51 p.m.

Created: 27 Jul 2016, 8:23 a.m.

Panel version: 0.116

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature
Emory Genetics Laboratory

Phenotypes

Myopathy, distal, 4, OMIM:614065
Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
Myopathy, myofibrillar, 5, OMIM:609524
Myopathy, myofibrillar, 5, MONDO:0012289

OMIM

102565

Clinvar variants

Variants in FLNC

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5 609524 to Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289

27 Jul 2016, Gel status: 4