Mitochondrial disorder with complex IV deficiency

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

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 5 Arab patients with same homozygous variant (also homozygotes on gnomAD, so ?pathogenicity); complex IV subunit
Created: 10 May 2019, 11:13 a.m.

Mode of inheritance
Unknown

Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: COX4I2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

Publications

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, noon
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 11:40 a.m.
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
  • NHS GMS
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

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COX4I2 was added gene: COX4I2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I2 were set to 19268275 Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714