Likely inborn error of metabolism - targeted testing not possible
Gene: COX4I2
Comment on phenotypes: Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)Created: 27 Sep 2019, 11:58 a.m. | Last Modified: 27 Sep 2019, 11:58 a.m.
Panel Version: 1.301
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).Created: 27 Sep 2019, 11:55 a.m. | Last Modified: 27 Sep 2019, 3:22 p.m.
Panel Version: 1.311
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
Phenotypes for gene: COX4I2 were changed from Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Publications for gene: COX4I2 were set to 27604308; 19268275; 22592081
Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Publications for gene: COX4I2 were set to 27604308
Source NHS GMS was added to COX4I2. Source London North GLH was added to COX4I2.
Sarah Leigh: Associated with phenotype in O
Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases for gene: COX4I2
gene: COX4I2 was added gene: COX4I2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I2 were set to 27604308 Phenotypes for gene: COX4I2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714