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Callosome
Gene: COX15

COX15 (COX15, cytochrome c oxidase assembly homolog)
EnsemblGeneIds (GRCh38): ENSG00000014919
EnsemblGeneIds (GRCh37): ENSG00000014919
OMIM: 603646, Gene2Phenotype
COX15 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Structural brain abnormalities are not a prominent feature of this condition.
Created: 31 Dec 2021, 4:45 a.m. | Last Modified: 31 Dec 2021, 4:45 a.m.

Panel Version: 0.350

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119

Publications

Created: 31 Dec 2021, 4:45 a.m.
Last Modified: 31 Dec 2021, 4:45 a.m.
Panel version: 0.350

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119

OMIM

Clinvar variants

Variants in COX15

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox15 has been classified as Red List (Low Evidence).

31 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119

31 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX15 were set to

31 Dec 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox15 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: COX15 was added gene: COX15 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COX15 was set to Unknown