This Panel is marked as Internal
Renal and urinary tract disorders
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
2 reviews
Helen Stuart (University of Manchester)
Bill Newman (Manchester Centre for Genomic Medicine)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- CAKUT
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: May be phenocopy of PUV
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency for gene: COX10
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COX10 was added gene: COX10 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: COX10 was set to Unknown Phenotypes for gene: COX10 were set to Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency