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This Panel is marked as Internal

Newborns main panel
Gene: UMPS

UMPS (uridine monophosphate synthetase)
EnsemblGeneIds (GRCh38): ENSG00000114491
EnsemblGeneIds (GRCh37): ENSG00000114491
OMIM: 613891, Gene2Phenotype
UMPS is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 35356460 (1 case) PMID: 33489760 (1 case) historically most cases ascertained biochemically. 9 P/LP variants on Varsome. PMID: 28205048 discusses heterozygotes. PMID: 36999056 (7 families, patients identified through newborn screening, all currently asymptomatic without treatment.)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Orotic aciduria

OMIM

Clinvar variants

Variants in UMPS

Penetrance

None

Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to UMPS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to UMPS. Added phenotypes Orotic aciduria for gene: UMPS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to UMPS. Added phenotypes Orotic aciduria for gene: UMPS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to UMPS. Added phenotypes Orotic aciduria for gene: UMPS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to UMPS. Added phenotypes Orotic aciduria for gene: UMPS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Orotic aciduria for gene: UMPS

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: UMPS was added gene: UMPS was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal