Limb girdle muscular dystrophy

Gene: FLNC

Green List (high evidence)

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.

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FLNC were set to Myopathy, myofibrillar, 5 609524

26 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Jun 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

FLNC was added to Limb girdle muscular dystrophypanel. Sources: Literature

17 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FLNC were set to 15929027; 17412757; 19050726; 22806379

17 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FLNC were set to 15929027; 17412757; 19050726

17 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FLNC were set to 15929027; 17412757

17 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FLNC were set to Myopathy, myofibrillar, 5 609524; Limb-girdle muscular dystrophy

14 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FLNC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLNC was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory