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Inborn errors of metabolism

Gene: UMPS

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least four potentially pathogenic variants reported in two cases (expert review for the intellectual panel recommends Green rating based on UMPS being a confirmed DDG).
Created: 12 Jan 2017, 11:56 a.m.
Comment on list classification: Confirmed DD gene
Created: 12 Jan 2017, 11:54 a.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Orotic aciduria
  • Orotic aciduria (Disorders of pyrimidine metabolism)
OMIM
613891
Clinvar variants
Variants in UMPS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UMPS. Source London North GLH was added to UMPS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: UMPS was added gene: UMPS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 27604308; 9042911 Phenotypes for gene: UMPS were set to Intellectual disability; Orotic aciduria; Orotic aciduria (Disorders of pyrimidine metabolism)