Hereditary neuropathy or pain disorder
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
-
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Portal hypertension, noncirrhotic, 617068
- Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Infantile nystagmus
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Mitochondrial disorders
- Acute rhabdomyolysis
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Ductal plate malformation
- Albinism or congenital nystagmus
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Polycystic liver disease
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: dguok has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DGUOK was added gene: DGUOK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 15883261 Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Portal hypertension, noncirrhotic, 617068; Neonatal liver failure, myopathy, sensory-motor axonal neuropathy