DGUOK

deoxyguanosine kinase
OMIM: 601465, Gene2Phenotype

22 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 22 panels
Red DGUOK in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.10	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 1.26	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 Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.4 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
Green DGUOK in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 3
Green DGUOK in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
Green DGUOK in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Portal hypertension, noncirrhotic (617068)
Red DGUOK in Polycystic liver disease Version 1.31 Latest signed off version: v1.26 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Portal hypertension, noncirrhotic (617068)
Red DGUOK in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 3
Green DGUOK in Mitochondrial liver disease, including transient infantile liver failure Version 1.12 Latest signed off version: v1.9 (22 Mar 2023)	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 1.180	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 3.6 Latest signed off version: v3.0 (22 Mar 2023)	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 1.617	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 Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 3.106 Latest signed off version: v3.105 (1 May 2024)	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
Amber DGUOK in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 Portal hypertension, noncirrhotic, 1, OMIM:617068
Red DGUOK in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	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 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	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 or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	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, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green DGUOK in Severe Paediatric Disorders Version 1.184	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
Green DGUOK in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
Red DGUOK in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880

DGUOK

22 panels

Red DGUOK in Infantile nystagmus

Sources

Phenotypes

Green DGUOK in Neonatal cholestasis

Sources

Phenotypes

Green DGUOK in Rhabdomyolysis and metabolic muscle disorders

Sources

Phenotypes

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

Sources

Phenotypes

Green DGUOK in Cholestasis

Sources

Phenotypes

Green DGUOK in Ductal plate malformation

Sources

Phenotypes

Red DGUOK in Polycystic liver disease

Sources

Phenotypes

Red DGUOK in Albinism or congenital nystagmus

Sources

Phenotypes

Green DGUOK in Mitochondrial liver disease, including transient infantile liver failure

Sources

Phenotypes

Green DGUOK in Inherited white matter disorders

Sources

Phenotypes

Green DGUOK in Mitochondrial DNA maintenance disorder

Sources

Phenotypes

Green DGUOK in Undiagnosed metabolic disorders

Sources

Phenotypes

Green DGUOK in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green DGUOK in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Amber DGUOK in Fetal anomalies

Sources

Phenotypes

Red DGUOK in Hereditary neuropathy

Sources

Phenotypes

Green DGUOK in Mitochondrial disorders

Sources

Phenotypes

Amber DGUOK in Hereditary neuropathy or pain disorder

Sources

Phenotypes

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

Sources

Green DGUOK in Severe Paediatric Disorders

Sources

Phenotypes

Green DGUOK in Acute rhabdomyolysis

Sources

Phenotypes

Red DGUOK in Paediatric pseudo-obstruction syndrome

Sources

Phenotypes