Genomics England
GMS Panels
Panels
Genes and Entities

COA5

cytochrome c oxidase assembly factor 5
OMIM: 613920
PanelMode of inheritanceDetails
1 panel
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Mitochondrial complex IV deficiency, 220110, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), syndromic HCM, ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3