Mitochondrial disorders
Gene: COX4I2EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels
3 reviews
Sarah Leigh (Genomics England Curator)
An additional heterozygous variant (c.253C>T (p.R85W) rs149245323), in a patient with cytochrome-c oxidase deficiency who also heterozygous for a COX10 variant (COX10 c.1096G>T (p.V366L) rs111541535)(PMID 22592081).Created: 30 Apr 2019, 2:31 p.m.
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Single report in the literature suggested by reviewer therefore this should be a red gene.Created: 8 Feb 2016, 1:47 p.m.
Shamima Rahman (UCL Institute of Child Health)
single report in literatureCreated: 3 Feb 2016, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
- Mitochondrial Diseases
- OMIM
- 607976
- Clinvar variants
- Variants in COX4I2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COX4I2 were set to 19268275
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COX4I2 were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COX4I2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COX4I2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)COX4I2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)COX4I2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory