White matter disorders and cerebral calcification - childhood onset
Gene: DGUOK
DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Mitochondrial Leukoencephalopathy
- Mitochondrial DNA depletion syndrome 3
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Cholestasis
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Inherited white matter disorders
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Polycystic liver disease
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Hereditary neuropathy
- Albinism or congenital nystagmus
- Mitochondrial DNA maintenance disorder
- Neonatal cholestasis
- Acute rhabdomyolysis
- Mitochondrial liver disease
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
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 White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 25655951 Phenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3