CAKUT
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
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
- Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Adult onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder - nuclear genes
- Structural basal ganglia disorders
- CAKUT
- Mitochondrial disorder with complex IV deficiency
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
History Filter Activity
21 Dec 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COX10 were changed from Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
22 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COX10 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen