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  2. Nucleotide metabolism disorders
  3. UMPS
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Nucleotide metabolism disorders

Gene: UMPS

Green List (high evidence)
UMPS (uridine monophosphate synthetase)
EnsemblGeneIds (GRCh38): ENSG00000114491
EnsemblGeneIds (GRCh37): ENSG00000114491
OMIM: 613891, Gene2Phenotype
UMPS is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

20 unrelated patients have been reported with biallelic missense variants; one mouse model

Orotic aciduria is characterised by megaloblastic anaemia and orotic acid crystalluria, frequently associated with a degree of physical and intellectual disability. Other features include, congenital malformations (Atrial/ Ventricular septal defect) and immunodeficiencies (T-cell dysfunction, failure to thrive, recurrent infections).

Haematology features
- Megaloblastic anaemia
- Low to normal reticulocyte count
- Anisocytosis
- Poikilocytosis
- Hypochromia
Created: 7 Sep 2021, 9:08 a.m. | Last Modified: 7 Sep 2021, 9:08 a.m.
Panel Version: 0.9101
Well established gene-disease association.
Sources: Expert Review
Created: 29 Jan 2021, 11:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orotic aciduria, MIM# 258900

Publications

Created: 29 Jan 2021, 11:48 p.m.

Panel version: Imported from Mendeliome panel version 0.9101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Orotic aciduria, MIM# 258900
OMIM
613891
Clinvar variants
Variants in UMPS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UMPS was added gene: UMPS was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 33489760; 9042911 Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900