Nucleotide metabolism disorders
Gene: UPB1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Disorder of pyrimidine metabolism. Phenotype can range from severe neurologic involvement with ID and seizures to normal neurologic development, likely related to amount of residual enzyme activity.
Created: 29 Jan 2021, 11:42 p.m. | Last Modified: 29 Jan 2021, 11:42 p.m.

Panel Version: 0.6137

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beta-ureidopropionase deficiency, MIM# 613161

Publications

Created: 29 Jan 2021, 11:42 p.m.
Last Modified: 29 Jan 2021, 11:42 p.m.
Panel version: Imported from Mendeliome panel version 0.6137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

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

Nucleotide metabolism disorders Gene: UPB1