Paediatric pseudo-obstruction syndrome
Gene: DGUOK
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
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
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
Gene: dguok has been classified as Red List (Low Evidence).
Publications for gene: DGUOK were set to
Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
Mode of inheritance for gene: DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
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