Genomics England
GMS Panels
Panels
Genes and Entities

COX5A

cytochrome c oxidase subunit 5A
OMIM: 603773
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520