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Intellectual disability syndromic and non-syndromic

Gene: COX20

Amber List (moderate evidence)

COX20 (COX20, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000203667
EnsemblGeneIds (GRCh37): ENSG00000203667
OMIM: 614698, Gene2Phenotype
COX20 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Complex neurological phenotypes including dystonia, ataxia, neuropathy associated with bi-allelic variants. One family reported with encephalopathy. Unclear if ID is part of the phenotype.
Created: 29 Nov 2019, 8:04 a.m. | Last Modified: 29 Nov 2019, 8:04 a.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM#220110

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex IV deficiency, MIM#220110
OMIM
614698
Clinvar variants
Variants in COX20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox20 has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, MIM#220110

29 Nov 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX20 were set to

29 Nov 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox20 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX20 was added gene: COX20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX20 was set to Unknown