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Inborn errors of metabolism

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: 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).
Created: 30 Sep 2019, 10:38 a.m. | Last Modified: 30 Sep 2019, 10:42 a.m.
Panel Version: 1.323
Comment on phenotypes: Leigh-like syndrome and epilepsy
Created: 30 Sep 2019, 10:35 a.m. | Last Modified: 30 Sep 2019, 10:35 a.m.
Panel Version: 1.322

Ellen McDonagh (Genomics England Curator)

Comment on list classification: As this is reported in a single case, this should be a red gene until further evidence arises.
Created: 15 Feb 2016, 11:17 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Mitochondrial complex IV deficiency 220110
OMIM
123870
Clinvar variants
Variants in COX8A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cox8a has been classified as Red List (Low Evidence).

30 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COX8A were changed from Leigh-like syndrome and epilepsy to ?Mitochondrial complex IV deficiency 220110

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: COX8A was added gene: COX8A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX8A were set to PMID: 26685157 Phenotypes for gene: COX8A were set to Leigh-like syndrome and epilepsy