Cytopenias and congenital anaemiasGene: COX4I2
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
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Amber List (Moderate Evidence).
Publications for COX4I2 were set to 19268275
COX4I2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
COX4I2 was created by LouiseD