This Panel is marked as Internal
Dystonia - childhood onset
Gene: COX10
COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leigh syndrome due to mitochondrial COX4 deficiency, 256000
- Mitochondrial complex IV deficiency, 220110
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- CAKUT
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Unexplained young onset end-stage renal disease - additional genes
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
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: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications
Eleanor Williams (Genomics England Curator)gene: COX10 was added gene: COX10 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 10767350