Nucleotide metabolism disorders

Gene: UPB1

Green List (high evidence)

UPB1 (beta-ureidopropionase 1)
EnsemblGeneIds (GRCh38): ENSG00000100024
EnsemblGeneIds (GRCh37): ENSG00000100024
OMIM: 606673, Gene2Phenotype
UPB1 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Beta-ureidopropionase deficiency MONDO:0013164
  • Disorders of pyrimidine metabolism
OMIM
606673
Clinvar variants
Variants in UPB1
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: UPB1 was added gene: UPB1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 24526388; 1796483; 27604308; 15385443; 25638458; 22525402 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency MONDO:0013164; Disorders of pyrimidine metabolism