Mitochondrial disorders
Gene: COX4I2
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
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.
single report in literatureCreated: 3 Feb 2016, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Publications for gene: COX4I2 were set to
Victorian Clinical Genetics Services was added to COX4I2. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
Phenotypes for COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases
Mode of inheritance for COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
COX4I2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
COX4I2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
COX4I2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory