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  3. COX6A2
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Mitochondrial disease

Gene: COX6A2

Green List (high evidence)
COX6A2 (cytochrome c oxidase subunit 6A2)
EnsemblGeneIds (GRCh38): ENSG00000156885
EnsemblGeneIds (GRCh37): ENSG00000156885
OMIM: 602009, Gene2Phenotype
COX6A2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and two mouse models.
Sources: Expert list
Created: 19 Mar 2020, 9:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062

Publications

Created: 19 Mar 2020, 9:18 a.m.

Panel version: 0.544

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
OMIM
602009
Clinvar variants
Variants in COX6A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX6A2 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062

19 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox6a2 has been classified as Green List (High Evidence).

19 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox6a2 has been classified as Green List (High Evidence).

19 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox6a2 has been classified as Green List (High Evidence).

19 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX6A2 was added gene: COX6A2 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A2 were set to 31155743; 23460811 Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110 Review for gene: COX6A2 was set to GREEN