Hypertrophic cardiomyopathy_HCM
Gene: VCL
Two individuals reported in 2006. One of the variants, p.Arg975Trp is present in 25 individuals in gnomad, the second, p.Leu277Met is present in 33.Created: 21 Jun 2020, 8:02 a.m. | Last Modified: 21 Jun 2020, 8:02 a.m.
Panel Version: 0.80
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic, 15, MIM# 613255
Publications
LIMITED evidence by ClinGen HCM working group PMID: 30681346Created: 21 Jun 2020, 6:32 a.m. | Last Modified: 21 Jun 2020, 6:32 a.m.
Panel Version: 0.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HCM
Publications
Gene: vcl has been classified as Red List (Low Evidence).
Phenotypes for gene: VCL were changed from to Cardiomyopathy, hypertrophic, 15, MIM# 613255
Publications for gene: VCL were set to
Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: vcl has been classified as Red List (Low Evidence).
gene: VCL was added gene: VCL was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VCL was set to Unknown