Hereditary neuropathy
Gene: DGUOKEnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Neuropathy not a major featureCreated: 6 Jun 2019, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Phenotypes
-
- Portal hypertension, noncirrhotic, 617068
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Publications
- 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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DGUOK were set to
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DGUOK were changed from to Portal hypertension, noncirrhotic, 617068; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DGUOK.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: DGUOK was added gene: DGUOK was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DGUOK was set to