Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: DKC1

Green List (high evidence)

DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Mar 2017, Gel status: 4

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.

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DKC1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

9 Mar 2017, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DKC1 were set to Dyskeratosis congenita; Dyskeratosis congenita, X-linked, 305000

9 Mar 2017, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DKC1 were set to 9590285; 9590276; 10217077; 10583221

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

DKC1 was created by LouiseD

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

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