DGUOK

deoxyguanosine kinase
OMIM: 601465
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
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))
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Mitochondrial DNA Depletion Syndrome
R-numbers: R352
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
R-numbers: R317
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, Mitochondrial Leukoencephalopathy, Mitochondrial DNA depletion syndrome 3