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  3. COX20
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Ataxia - paediatric

Gene: COX20

Green List (high 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)

Green List (high evidence)

Five unrelated families reported (including two Turkish families segregating same homozygous variant, likely founder effect). Dysarthria, dystonia, ataxia, neuropathy are common. Cognitive impairment in 2.
Created: 25 Oct 2020, 9 a.m. | Last Modified: 25 Oct 2020, 9 a.m.
Panel Version: 0.5112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054

Publications

Created: 25 Oct 2020, 9 a.m.
Last Modified: 25 Oct 2020, 9 a.m.
Panel version: Imported from Mendeliome panel version 0.5112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Mitochondrial complex IV deficiency
OMIM
614698
Clinvar variants
Variants in COX20
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COX20 was added gene: COX20 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Mitochondrial complex IV deficiency