1. Panels
  2. Mitochondrial disease
  3. COX8A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

Gene: COX8A

Red List (low evidence)
COX8A (cytochrome c oxidase subunit 8A)
EnsemblGeneIds (GRCh38): ENSG00000176340
EnsemblGeneIds (GRCh37): ENSG00000176340
OMIM: 123870, Gene2Phenotype
COX8A is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 3 Feb 2020, 8 a.m. | Last Modified: 3 Feb 2020, 8 a.m.
Panel Version: 0.54

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059

Publications

Created: 3 Feb 2020, 8 a.m.
Last Modified: 3 Feb 2020, 8 a.m.
Panel version: 0.535

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059
OMIM
123870
Clinvar variants
Variants in COX8A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX8A were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059

3 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110

3 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX8A were set to

3 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX8A was added gene: COX8A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: COX8A was set to Unknown