Structural basal ganglia disorders
Gene: COX10EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels
4 reviews
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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P also for both. At least variants reported. Three variants reported in two cases of Leigh syndrome MIM 256000. Three variants reported in two cases of Mitochondrial complex IV deficiency MIM 220110, omim clinical synopsis states "Symmetric lesions in the basal ganglia consistent with Leigh syndrome"Created: 2 Mar 2017, 12:57 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Unexplained young onset end-stage renal disease - additional genes
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for COX10 were set to 10767350
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Manju Kurian (UCL-Institute of Child Health)COX10 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)COX10 was added to Structural basal ganglia disorderspanel. Sources: Literature