Cytopenias and congenital anaemias
Gene: COX4I2
COX4I2 (cytochrome c oxidase subunit 4I2)
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000131055
EnsemblGeneIds (GRCh37): ENSG00000131055
OMIM: 607976, Gene2Phenotype
COX4I2 is in 7 panels
1 review
Helen Brittain (Genomics England Curator)
4 patients from 2 families, single population and single mutation. Haplotypes suggest the families may be related. Further cases required to be confident of causation and therefore amber.Created: 28 Feb 2017, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
- OMIM
- 607976
- Clinvar variants
- Variants in COX4I2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 2
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
7 Mar 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Feb 2017, Gel status: 2
Set publications
Helen Brittain (Genomics England Curator)Publications for COX4I2 were set to 19268275
17 Feb 2017, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)COX4I2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)COX4I2 was created by LouiseD