Ataxia and cerebellar anomalies - childhood onset
Gene: COX20
COX20 (COX20, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000203667
EnsemblGeneIds (GRCh37): ENSG00000203667
OMIM: 614698, Gene2Phenotype
COX20 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000203667
EnsemblGeneIds (GRCh37): ENSG00000203667
OMIM: 614698, Gene2Phenotype
COX20 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex IV deficiency, 220110
- OMIM
- 614698
- Clinvar variants
- Variants in COX20
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Mitochondrial disorder with complex IV deficiency
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Possible mitochondrial disorder, nuclear genes
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: COX20 was added gene: COX20 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal