Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: FLNC
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 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 correctlyCreated: 17 Jun 2016, 1:51 p.m.
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
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Phenotypes for FLNC were set to Myopathy, myofibrillar, 5 609524
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FLNC was added to Limb girdle muscular dystrophypanel. Sources: Literature
This gene has been classified as Amber List (Moderate Evidence).
Publications for FLNC were set to 15929027; 17412757; 19050726; 22806379
Publications for FLNC were set to 15929027; 17412757; 19050726
Publications for FLNC were set to 15929027; 17412757
Phenotypes for FLNC were set to Myopathy, myofibrillar, 5 609524; Limb-girdle muscular dystrophy
Mode of inheritance for FLNC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FLNC was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory