Cholestasis
Gene: DGUOKThe 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
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
Tag for-review was removed from gene: DGUOK.
Source Expert Review Green was added to DGUOK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: dguok has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DGUOK.
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
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