Distal myopathies
Gene: FLNC

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Mutations in this gene can cause a distal myopathy phenotype
Created: 20 Feb 2017, 4:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myofibrillar myopathy 5, 609524; Distal myopathy 4, 614065

Publications

Created: 1 Feb 2017, 9:54 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review

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 myofibrillar myopathy 5, 609524; Distal myopathy 4, 614065 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

22 Feb 2017, Gel status: 4