Congenital nystagmus
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 and nystagmus is a listed feature in OMIM. However, clinical presentation is typically with progressive liver failure and neurologic abnormalities, hypoglycaemia, and increased lactate. Ophthalmoplegia is the more common finding in keeping with mitochondrial disorders.Created: 28 Oct 2021, 1:15 a.m. | Last Modified: 28 Oct 2021, 1:15 a.m.
Panel Version: 0.161
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 Red
- Genomics England PanelApp
- NHS Genomic Medicine Service
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Publications
- 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Mitochondrial DNA depletion syndrome 3 for gene: DGUOK
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DGUOK was added gene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 12210798; 12205643 Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3