Congenital muscular dystrophy and congenital myopathy
Gene: FLNCEnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 11 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Four unrelated patients with cardiomyopathy, arthrogryposis, and a limb-girdle pattern of skeletal muscle weakness at birth or during the first year of life harboured de novo missense variants; three of these patients had p.Ala1186Val.
Kiselev A, Vaz R, Knyazeva A, et al. : De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat. 2018;39(9):1161–72. 10.1002/humu.23559Created: 4 Dec 2019, 1:12 p.m. | Last Modified: 4 Dec 2019, 1:12 p.m.
Panel Version: 1.208
Anna Sarkozy (Great Ormond Street Hospital)
Phenotypes
Myopathy, myofibrillar, 5, 609524
Helen Brittain (Genomics England Curator)
Comment when marking as ready: earliest onset in teens.Created: 3 Feb 2017, noon
Muscle phenotypes outlined above generally of adult onset (earliest in teens) so not relevant for congenital myopathy.Created: 30 Jan 2017, 4:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic 26; Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Myopathy, distal, 4, OMIM:614065
- Myopathy, myofibrillar, 5, OMIM:609524
- OMIM
- 102565
- Clinvar variants
- Variants in FLNC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Distal myopathies
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: FLNC was added gene: FLNC was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Amber,Expert Review,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLNC were set to 29858533 Phenotypes for gene: FLNC were set to Myopathy, distal, 4, OMIM:614065; Myopathy, myofibrillar, 5, OMIM:609524 Penetrance for gene: FLNC were set to Complete