Dilated Cardiomyopathy
Gene: FLNCEnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
DEFINITIVE by ClinGen.Created: 18 May 2021, 3:17 a.m. | Last Modified: 18 May 2021, 3:17 a.m.
Panel Version: 0.110
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated cardiomyopathy
Publications
Paul De Fazio (Victorian Clinical Genetics Services)
PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a much higher incidence of missense variants over LoF variants.
Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.
Green on PanelApp GEL.
Sources: LiteratureCreated: 5 Aug 2020, 12:49 a.m. | Last Modified: 5 Aug 2020, 12:50 a.m.
Panel Version: 0.55
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dilated cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dilated cardiomyopathy
- 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 30067491; 28008423; 31245841; 28436997; 32112656
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
Paul De Fazio (Victorian Clinical Genetics Services)gene: FLNC was added gene: FLNC was added to Dilated Cardiomyopathy. 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 30067491; 28008423; 31245841; 28436997; 32112656 Phenotypes for gene: FLNC were set to Dilated cardiomyopathy Review for gene: FLNC was set to GREEN gene: FLNC was marked as current diagnostic