Unexplained kidney failure in young people
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
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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
-
- DDG2P
- Fetal anomalies
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- CAKUT
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Mitochondrial disorder with complex IV deficiency
- Unexplained young onset end-stage renal disease - additional genes
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
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
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)COX10 was created by sleigh
18 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)COX10 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red