Cholestasis
Gene: DGUOKEnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and will be promoted to Green status at the next review.
This gene is also Green on Mitochondrial liver disease (v1.3), Mitochondrial DNA maintenance disorder (1.3), Inborn errors of metabolism (v2.24) and Possible mitochondrial disorder - nuclear genes (v1.17), Mitochondrial disorders (v2.8). It is also a Green gene on the Neonatal cholestasis panel (v1.4).Created: 29 Oct 2020, 1:08 p.m. | Last Modified: 29 Oct 2020, 1:08 p.m.
Panel Version: 1.50
Zornitza Stark (Australian Genomics)
Progressive liver disease including cholestasis is a prominent part of the presenting phenotype.
Sources: Expert listCreated: 8 Aug 2020, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- White matter disorders and cerebral calcification - narrow panel
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Ductal plate malformation
- Possible mitochondrial disorder - nuclear genes
- Neonatal cholestasis
- Albinism or congenital nystagmus
- Polycystic liver disease
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: DGUOK.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to DGUOK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: dguok has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: DGUOK.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: DGUOK was added gene: DGUOK was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Review for gene: DGUOK was set to GREEN gene: DGUOK was marked as current diagnostic