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Molecular autopsy

Gene: UPB1

Red List (low evidence)
UPB1 (beta-ureidopropionase 1)
EnsemblGeneIds (GRCh38): ENSG00000100024
EnsemblGeneIds (GRCh37): ENSG00000100024
OMIM: 606673, Gene2Phenotype
UPB1 is in 3 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)
  • Beta-ureidopropionase deficiency 613161
OMIM
606673
Clinvar variants
Variants in UPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161 for gene: UPB1

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: UPB1 was added gene: UPB1 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 27604308 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161