Possible mitochondrial disorder, nuclear genes
Gene: COX10EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Paediatric pseudo-obstruction syndrome
- CAKUT
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Mitochondrial disorder with complex IV deficiency
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder, nuclear genes
- Unexplained kidney failure in young people
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COX10 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COX10 was added gene: COX10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110