Mitochondrial disorders
Gene: COX10EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 19 panels
2 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
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
- OMIM
- 602125
- Clinvar variants
- Variants in COX10
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Paediatric pseudo-obstruction syndrome
- CAKUT
- Fetal anomalies
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Mitochondrial disorder with complex IV deficiency
- DDG2P
- Unexplained young onset end-stage renal disease - additional genes
- Intellectual disability
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder, nuclear genes
- Unexplained kidney failure in young people
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COX10 were changed from Isolated complex IV deficiency; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COX10. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)COX10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)COX10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)COX10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene COX10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)COX10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)COX10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services