Hypertrophic cardiomyopathy - teen and adultGene: COA5
?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (616500)
Created: 25 Mar 2019, 4:30 p.m.
AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908. Homozygous varaints associated with neonatal cardiomyopathy.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source South West GLH was added to COA5. Mode of inheritance for gene COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
COA5 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list