Hypertrophic cardiomyopathy - teen and adultGene: MRPL3
Combined oxidative phosphorylation deficiency 9 (614582)
Created: 25 Mar 2019, 4:30 p.m.
HGMD - 1 DM variant assoc with AR HCM. Only one paper: Galmiche (2011) Hum Mutat 32: 1225 PubMed: 21786366 .
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source South West GLH was added to MRPL3. Mode of inheritance for gene MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
MRPL3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list