Hypertrophic cardiomyopathy_HCM
Gene: FLNCEnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 12 panels
2 reviews
Ivan Macciocca (Victorian Clinical Genetics Services)
FLNC not Curated for HCM by ClinGen
OMIM associates FLNC with HCM, RCM and myopathy
PMID 25351925: 8 Spanish families from 1 paper with likely pathogenic variants in FLNC (after sarcomeric variants had been excluded). 5 families have segregation to first degree relatives, 1 family has segregation data to second degree relatives and a 1 family has segregation data to 1st cousins once remove.
At least 6 families reported in ClinVar with Hypertrophy CM or restrictive CM with Pathogenic/likely pathogenic variants in FLNC
Another paper found FLNC varainst were common in both HCM and healthy populations and suggested caution in interpreting FLNC variants in HCM (PMID: 30411535).Created: 19 Jun 2020, 2:31 p.m. | Last Modified: 19 Jun 2020, 2:31 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypertrophic cardiomyopathy; distal myopathy; restrictive cardiomyopathy
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple affected individuals with cardiomyopathy, including HOCM reported.
Sources: Expert ReviewCreated: 3 Feb 2020, 5:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic, 26
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cardiomyopathy, familial hypertrophic, 26
- OMIM
- 102565
- Clinvar variants
- Variants in FLNC
- Penetrance
- None
- Publications
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FLNC were set to 31924696; 28356264
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLNC was added gene: FLNC was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert Review Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 31924696; 28356264 Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26 Review for gene: FLNC was set to GREEN