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Inborn errors of metabolism

Gene: COX4I2

Amber List (moderate evidence)

COX4I2 (cytochrome c oxidase subunit 4I2)
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

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)

Green List (high evidence)

single report in literature
Created: 3 Feb 2016, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
OMIM
607976
Clinvar variants
Variants in COX4I2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

27 Sep 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COX4I2 were set to 27604308; 19268275; 22592081

27 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cox4i2 has been classified as Amber List (Moderate Evidence).

27 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COX4I2 were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COX4I2. Source London North GLH was added to COX4I2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases for gene: COX4I2

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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