Childhood onset dystonia, chorea or related movement disorder
Gene: COX20
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:18 a.m. | Last Modified: 11 Oct 2023, 9:18 a.m.
Panel Version: 3.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
COX20 is associated with autosomal recessive mitochondrial disease, with a definitive classification according to ClinGen. Patients present with a combination of childhood-onset cerebellar ataxia, dystonia, and sensory axonal neuropathy. Dong et al. (2021) report 8 unrelated affected individuals from unrelated families from the eastern Chinese population carrying a founder variant c.41A>G (p.Lys14Arg) in either the homozygous or compound heterozygous state. All patients displayed early onset and slowly progressive deep sensory loss and sensory ataxia. In vitro functional studies performed on the identified variants show that they lead to a loss of function. Otero et al. (2019) also report 4 patients with childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy, who carry the same p.Lys14Arg variant in the compound heterozygous state, and also perform functional studies showing the variant results in absent COX20 expression. Doss et al. (2014) also report 2 siblings with the same neuropathy phenotype, with a different homozygous loss of function variant, c.154A>C (p.Thr52Pro). Knockdown of COX20 results in complex IV deficiency and perturbed assembly of complex IV, as do a number of genes that have been implicated with peripheral neuropathies. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.Created: 20 Jan 2023, 11:16 a.m. | Last Modified: 20 Jan 2023, 11:16 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
Publications
Tag Q1_23_promote_green was removed from gene: COX20.
Source NHS GMS was added to COX20. Source Expert Review Green was added to COX20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054 to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, nuclear type 11, OMIM:619054
Publications for gene: COX20 were set to
Tag Q1_23_promote_green tag was added to gene: COX20.
Source Expert Review Amber was added to COX20. Mode of inheritance for gene COX20 was changed from to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: COX20 was added gene: COX20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: COX20 was set to