Liver Failure_Paediatric
Gene: DGUOKEnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.
Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion.
Sources: Expert listCreated: 1 Nov 2020, 12:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Congenital nystagmus
- Prepair 500+
- Congenital ophthalmoplegia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dguok has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dguok has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dguok has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DGUOK was added gene: DGUOK was added to Acute Liver Failure_Paediatric. 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