Rhabdomyolysis and Metabolic Myopathy

Gene: DGUOK

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion.

The three associations likely represent a continuum of severity for a mitochondrial disorder.
Created: 7 May 2022, 8:30 a.m. | Last Modified: 7 May 2022, 8:30 a.m.
Panel Version: 0.13916

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with rhabdomyolysis
Sources: Literature
Created: 29 May 2020, 3:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolisis; lower limb weakness

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
OMIM
601465
Clinvar variants
Variants in DGUOK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

15 Apr 2023, Gel status: 1

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DGUOK were changed from Rhabdomyolisis; lower limb weakness to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070

15 Apr 2023, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DGUOK were set to 23043144

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dguok has been classified as Red List (Low Evidence).

29 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DGUOK was added gene: DGUOK was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 23043144 Phenotypes for gene: DGUOK were set to Rhabdomyolisis; lower limb weakness Review for gene: DGUOK was set to RED