Neonatal cholestasis

Gene: DGUOK

Green List (high evidence)

DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 cases and a Green expert review.
Created: 25 Jul 2018, 11:08 a.m.
Comment on phenotypes: Cholestasis is a feature of Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).
Created: 25 Jul 2018, 10:55 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mitochondrial disease; cholestasis

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Cholestasis

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dguok has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dguok has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DGUOK were set to 28493820; 20301766; 24321534; 22602837; 21680270; 17682973; 17538929

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DGUOK were set to 28493820; 20301766; 24321534; 22602837; 21680270; 17682973

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DGUOK were set to 28493820; 20301766; 24321534; 22602837

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DGUOK were set to 28493820; 20301766; 24321534

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DGUOK were set to 28493820; 20301766

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DGUOK were set to 28493820

25 Jul 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 251880

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DGUOK. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DGUOK was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DGUOK was created by Ellen McDonagh