1. Panels
  2. Prepair 1000+
  3. UPB1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: UPB1

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Red List (low evidence)

Disorder of pyrimidine metabolism. Phenotype can range from severe neurologic involvement with ID and seizures to normal neurologic development.
Gene of uncertain clinical significance hence not suitable for reproductive genetic carrier screening

HGNC approved symbol/name: UPB1
Is the phenotype(s) severe and onset <18yo? N Extremely variable phenotype

Fifty-three published cases were identified, and two additional cases are reported here. Of these, 14 were asymptomatic and four had transient neurological features; clinical features in the remainder were variable and included non-neurological presentations. Several of the variants previously reported as pathogenic are present in population databases at frequencies higher than expected for a rare condition.

Known technical challenges? N
Created: 7 Feb 2025, 3:39 a.m. | Last Modified: 7 Feb 2025, 3:39 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beta-ureidopropionase deficiency, MIM# 613161; MONDO:0013164

Publications

Created: 7 Feb 2025, 3:39 a.m.
Last Modified: 7 Feb 2025, 3:39 a.m.
Panel version: 1.1460

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Beta-ureidopropionase deficiency, MIM# 613161
  • MONDO:0013164
OMIM
606673
Clinvar variants
Variants in UPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upb1 has been classified as Red List (Low Evidence).

7 Feb 2025, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UPB1 were set to 24526388

7 Feb 2025, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, MIM #613161 to Beta-ureidopropionase deficiency, MIM# 613161; MONDO:0013164

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UPB1 was added gene: UPB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 24526388 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM #613161