Hypertrophic cardiomyopathy - teen and adultGene: SCO2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (604377); Myopia 6 (608908)
Created: 25 Mar 2019, 4:30 p.m.
BGL - No variants detected: https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source South West GLH was added to SCO2. Mode of inheritance for gene SCO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SCO2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list