Hereditary neuropathy NOT PMP22 copy numberGene: DGUOK
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.
Neuropathy not a major feature
Created: 6 Jun 2019, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Gene: dguok has been classified as Amber List (Moderate Evidence).
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