Cytopenias and congenital anaemiasGene: WRAP53
The two individuals reported with WRAP53 compound heterozygous pathogenic variants have classic DC with the mucocutaneous phenotype and bone marrow failure (20301779). Hence AA/cytopennia could be a presenting feature
Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dyskeratosis congenita, autosomal recessive 3, 613988
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
WRAP53 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber
WRAP53 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
WRAP53 was created by LouiseD