Arthrogryposis
Gene: FLNCEnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 12 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Myofibrillar myopathy - LOF
Distal myopathy - GOF
Cardiomyopathy, familial hypertrophic - LOF PTCs
PMID: 29858533 - 4 patients with both restrictive cardiomyopathy and congenital myopathy. 4/4 displayed limb girdle muscle weakness, where 1/4 was mild.
3/4 also presented with arthrogryposis
Sources: LiteratureCreated: 1 Jul 2020, 2:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524
Publications
- PMID: 29858533
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cardiomyopathy, familial restrictive 5 617047
- Myopathy, distal, 4 614065
- Myopathy, myofibrillar, 5 609524
- OMIM
- 102565
- Clinvar variants
- Variants in FLNC
- Penetrance
- None
- Publications
-
- PMID: 29858533
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Additional findings_Adult
- Arrhythmogenic Cardiomyopathy
- Fetal anomalies
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Arthrogryposis
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flnc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: flnc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Elena Savva (Victorian Clinical Genetics Services)gene: FLNC was added gene: FLNC was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLNC were set to PMID: 29858533 Phenotypes for gene: FLNC were set to Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524 Mode of pathogenicity for gene: FLNC was set to Other Review for gene: FLNC was set to GREEN