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BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).

Better check with John who wrote the paper!! PMID: 25030255

Treat uridine
Very rare only 20 cases but treatable.
Sources: Expert list
Created: 14 Mar 2023, 2:22 a.m. | Last Modified: 14 Mar 2023, 2:37 a.m.
Panel Version: 0.1974

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orotic aciduria MIM#258900

Publications

Created: 14 Mar 2023, 2:22 a.m.
Last Modified: 14 Mar 2023, 2:37 a.m.
Panel version: 0.1974

Details

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

History Filter Activity

21 Aug 2023, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: UMPS.

15 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Mar 2023, Gel status: 0

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: UMPS. Tag treatable tag was added to gene: UMPS. Tag metabolic tag was added to gene: UMPS.

14 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: UMPS was added gene: UMPS was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760 Phenotypes for gene: UMPS were set to Orotic aciduria MIM#258900 Review for gene: UMPS was set to GREEN