Structural basal ganglia disorders
Gene: COX15
COX15 (COX15, cytochrome c oxidase assembly homolog)
EnsemblGeneIds (GRCh38): ENSG00000014919
EnsemblGeneIds (GRCh37): ENSG00000014919
OMIM: 603646, Gene2Phenotype
COX15 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000014919
EnsemblGeneIds (GRCh37): ENSG00000014919
OMIM: 603646, Gene2Phenotype
COX15 is in 16 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 phenotype in OMIM and as a confirmed G2P. At 4 least variants reported in at least 4 cases.Created: 2 Mar 2017, 1 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 6, OMIM:615119
- OMIM
- 603646
- Clinvar variants
- Variants in COX15
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
21 Dec 2022, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)COX15 was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)COX15 was added to Structural basal ganglia disorderspanel. Sources: Literature