Cytopenias and congenital anaemiasGene: DKC1
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 15 variants reported.
Created: 9 Mar 2017, 11:38 a.m.
Comment on phenotypes: Inherited Bone Marrow Failure Syndromes
Created: 9 Mar 2017, 11:37 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DKC1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for DKC1 were set to Dyskeratosis congenita; Dyskeratosis congenita, X-linked, 305000
Publications for DKC1 were set to 9590285; 9590276; 10217077; 10583221
DKC1 was created by LouiseD
DKC1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Eligibility statement prior genetic testing,Expert list,UKGTN