DGUOK

deoxyguanosine kinase
OMIM: 601465, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red DGUOK in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Mitochondrial DNA depletion syndrome 3

Green DGUOK in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Cholestasis

Green DGUOK in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Mitochondrial Leukoencephalopathy
    • Mitochondrial DNA depletion syndrome 3

    Amber DGUOK in Cholestasis


    Version 1.88
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    Tags
    • for-review

    Green DGUOK in Ductal plate malformation


    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Portal hypertension, noncirrhotic (617068)

    Red DGUOK in Polycystic liver disease interim


    Version 1.23
    Latest signed off version: v1.4 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Portal hypertension, noncirrhotic (617068)

    Red DGUOK in Albinism or congenital nystagmus


    Version 1.17
    Latest signed off version: v1.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Mitochondrial DNA depletion syndrome 3

    Green DGUOK in Mitochondrial liver disease


    Version 1.4
    Latest signed off version: v1.2 (17 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070

    Green DGUOK in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.141

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • Mitochondrial DNA depletion syndrome 3
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green DGUOK in Mitochondrial DNA maintenance disorder


    Version 1.4
    Latest signed off version: v1.2 (17 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070

    Green DGUOK in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Mitochondrial DNA Depletion Syndrome

    Green DGUOK in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Mitochondrial DNA Depletion Syndrome
    • Disorders of mitochondrial DNA maintenance and integrity
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

    Green DGUOK in Possible mitochondrial disorder - nuclear genes


    Version 1.53
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070

    Red DGUOK in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.416

    review 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

    Green DGUOK in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Mitochondrial DNA Depletion Syndrome

    Amber DGUOK in Hereditary neuropathy NOT PMP22 copy number


    Version 1.63
    Latest signed off version: v1.36 (5 Aug 2021)

    review 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

    Red DGUOK in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green DGUOK in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
    • Portal hypertension, noncirrhotic, 617068