Cardiomyopathy_Paediatric
Gene: TCAPComment on list classification: Now DISPUTED gene-disease association by ClinGen Hereditary Cardiovascular Disease GCEPCreated: 23 Apr 2024, 8:19 a.m. | Last Modified: 23 Apr 2024, 8:19 a.m.
Panel Version: 0.178
Three families reported. Variant p.Thr137Ile is present in 4 individuals in gnomad, p.Arg153His is present in 65, and p.Arg70Trp is present in 11.Created: 21 Jun 2020, 8:09 a.m. | Last Modified: 21 Jun 2020, 8:09 a.m.
Panel Version: 0.87
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic, 25, MIM# 607487
Publications
LIMITED evidence by ClinGen HCM working group PMID: 30681346Created: 21 Jun 2020, 6:30 a.m. | Last Modified: 21 Jun 2020, 6:30 a.m.
Panel Version: 0.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HCM
Publications
gene: TCAP was added gene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCAP were set to 21530252; 23479141 Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N