Paediatric pseudo-obstruction syndrome
Gene: DGUOKEnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time. DGUOK causes a hepatocerebral mitochondrial depletion disorder characterised by hepatic dysfunction, psychomotor delay, hypotonia, nystagmus/opsoclonus, lactic acidosis, hypoglycemia.Created: 3 Jan 2023, 1:45 p.m. | Last Modified: 3 Jan 2023, 1:45 p.m.
Panel Version: 0.174
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Role in purine nucleoside salvage pathway.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Elevated serum concentration of tyrosine/phenylalanine, elevation of liver enzymes, increased serum concentration of ferritin, deficiency in complexes I, III, IV
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Polycystic liver disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Infantile nystagmus
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Ductal plate malformation
- Possible mitochondrial disorder - nuclear genes
- Albinism or congenital nystagmus
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: dguok has been classified as Red List (Low Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: DGUOK were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: DGUOK was added gene: DGUOK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: DGUOK was set to