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  3. DGUOK
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Hereditary Neuropathy - complex

Gene: DGUOK

Green List (high evidence)
DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: NHS GMS
Created: 31 Mar 2020, 7:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy

Created: 31 Mar 2020, 7:59 a.m.

Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dguok has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dguok has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 1

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 Hereditary Neuropathy - complex. Sources: NHS GMS 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), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy Review for gene: DGUOK was set to GREEN