Mitochondrial liver disease, including transient infantile liver failure
Gene: DGUOKEnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: DGUOK; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and metabolic muscle disorders
- Ductal plate malformation
- Albinism or congenital nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Polycystic liver disease
- Hereditary neuropathy
- Acute rhabdomyolysis
- Fetal anomalies
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Infantile nystagmus
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Mitochondrial disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DGUOK was added gene: DGUOK was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS 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), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070