Previous cardiomyopathies - including childhood onset
Gene: HRAS
OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own. : Sana (2016) A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation. PLoS ONE 1(12): e0168501.doi:10.1371/journal.pone.0168501: HRAS variant detected in an affected adult with HCM who did not have a known familial MYH7 variant his daughter also carried the variants who had HCM and intellectual disability - no paediatric onset.Created: 25 Mar 2019, 4:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to HRAS.
Source South West GLH was added to HRAS.
Eleanor Williams: Note: no phenotype in the sour
Added phenotypes syndromic HCM for gene: HRAS
gene: HRAS was added gene: HRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 21396583; PMID: 16170316; 16969868; 16443854 Phenotypes for gene: HRAS were set to Costello syndrome Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments