Polycystic liver disease interim

Gene: DGUOK

Red List (low evidence)

DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 19 panels

1 review

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with portal hypertension. Therefore, this gene has been given a red rating.
Created: 12 Mar 2019, 1:37 p.m.

History Filter Activity

12 Mar 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dguok has been classified as Red List (Low Evidence).

12 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: DGUOK was added gene: DGUOK was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 30234759; 17073823; 26874653 Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068)