Dilated Cardiomyopathy
Gene: C10orf71EnsemblGeneIds (GRCh38): ENSG00000177354
EnsemblGeneIds (GRCh37): ENSG00000177354
C10orf71 is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Identified a frameshift variant in a large multigenerational family with 8 affected individuals.
Further identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants.
c10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant.
Sources: OtherCreated: 3 Jul 2024, 2:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dilated cardiomyopathy MONDO:0005021
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- dilated cardiomyopathy MONDO:0005021
- Clinvar variants
- Variants in C10orf71
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c10orf71 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c10orf71 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: C10orf71 was added gene: C10orf71 was added to Dilated Cardiomyopathy. Sources: Other Mode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C10orf71 were set to 38950288 Phenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021 Review for gene: C10orf71 was set to GREEN