Neonatal cholestasis
Gene: DGUOKEnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mitochondrial disease; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Cholestasis
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Polycystic liver disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Infantile nystagmus
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Ductal plate malformation
- Possible mitochondrial disorder - nuclear genes
- Albinism or congenital nystagmus
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Cholestasis
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dguok has been classified as Green List (High Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dguok has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: DGUOK were set to 28493820; 20301766; 24321534; 22602837; 21680270; 17682973; 17538929
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: DGUOK were set to 28493820; 20301766; 24321534; 22602837; 21680270; 17682973
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: DGUOK were set to 28493820; 20301766; 24321534; 22602837
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: DGUOK were set to 28493820; 20301766; 24321534
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: DGUOK were set to 28493820; 20301766
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: DGUOK were set to 28493820
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 251880
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to DGUOK. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)DGUOK was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)DGUOK was created by Ellen McDonagh