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  2. Miscellaneous Metabolic Disorders
  3. UMPS
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Miscellaneous Metabolic 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)

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

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

Panel version: 0.66

History Filter Activity

29 Jan 2021, 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).

29 Jan 2021, 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).

29 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UMPS was added gene: UMPS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900 Review for gene: UMPS was set to GREEN