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Undiagnosed metabolic disorders

Gene: COX8A

Red List (low evidence)

COX8A (cytochrome c oxidase subunit 8A)
EnsemblGeneIds (GRCh38): ENSG00000176340
EnsemblGeneIds (GRCh37): ENSG00000176340
OMIM: 123870, Gene2Phenotype
COX8A is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. The proband died from cardiorespiratory failure associated with infection and metabolic crisis at 12.5 years. No further variants reported to date (30/09/2019).
Sources: Literature
Created: 30 Sep 2019, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

?Mitochondrial complex IV deficiency 220110



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Literature
  • ?Mitochondrial complex IV deficiency 220110
Clinvar variants
Variants in COX8A
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: COX8A was added gene: COX8A was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX8A were set to 26685157 Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency 220110 Review for gene: COX8A was set to RED