Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: DKC1

Amber List (moderate evidence)

DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 20 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: X-linked recessive/hemizygous according to OMIM and G2P.
Created: 12 Oct 2016, 11:33 a.m.
Comment on list classification: Clear evidence for association with Dyskeratosis congenita, X-linked, with multiple cases and different variants reported, which includes Immunodeficiency as part of the clinical profile therefore unsure whether this should be included in this panel.
Created: 12 Oct 2016, 11:33 a.m.

Neil shah (GOSH)

Green List (high evidence)

History Filter Activity

14 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DKC1 were set to Hoyeraal Hreidarsson Syndrome;Dyskeratosis congenita, X-linked

12 Oct 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DKC1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DKC1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list