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
-
- NHS GMS
- Expert Review
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- 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
-
- Dilated and arrhythmogenic cardiomyopathy
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Distal myopathies
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNC were changed from 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 to Myopathy, distal, 4, OMIM:614065; Myopathy, myofibrillar, 5, OMIM:609524
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy 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
Added New Source, Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review was added to FLNC. Source NHS GMS was added to FLNC.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: flnc has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FLNC were set to
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()FLNC was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen