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Genetic Epilepsy

Gene: COX15

Amber List (moderate evidence)

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)

I don't know

Small number of families described, seizures sometimes a feature.
Created: 21 Jan 2020, 9:21 a.m. | Last Modified: 21 Jan 2020, 9:21 a.m.
Panel Version: 0.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
  • MIM#615119 and Leigh syndrome #256000
OMIM
603646
Clinvar variants
Variants in COX15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox15 has been classified as Amber List (Moderate Evidence).

21 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000

21 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000

21 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX15 were set to

21 Jan 2020, Gel status: 2

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

21 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox15 has been classified as Amber List (Moderate 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 Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COX15 was set to Unknown