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  3. COA3
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Mitochondrial disease

Gene: COA3

Red List (low evidence)
COA3 (cytochrome c oxidase assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000183978
EnsemblGeneIds (GRCh37): ENSG00000183978
OMIM: 614775, Gene2Phenotype
COA3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single affected individual reported.
Created: 1 Feb 2020, 5:20 a.m. | Last Modified: 1 Feb 2020, 5:20 a.m.
Panel Version: 0.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058

Publications

Created: 1 Feb 2020, 5:20 a.m.
Last Modified: 1 Feb 2020, 5:20 a.m.
Panel version: 0.534

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 14, MIM#619058
OMIM
614775
Clinvar variants
Variants in COA3
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: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coa3 has been classified as Red List (Low Evidence).

1 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency

1 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COA3 were set to

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coa3 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: COA3 was added gene: COA3 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: COA3 was set to Unknown