Unexplained young onset end-stage renal disease - additional genes
Gene: COX10EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
Unknown
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Bill Newman (Manchester Centre for Genomic Medicine)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- CAKUT
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Unexplained young onset end-stage renal disease - additional genes
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COX10 were changed from Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 for gene: COX10
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: COX10 was added gene: COX10 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: COX10 was set to Unknown Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency