Miscellaneous Metabolic 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

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.
Sources: Expert list
Created: 29 Jan 2021, 11:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Beta-ureidopropionase deficiency, MIM# 613161

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Beta-ureidopropionase deficiency, MIM# 613161
OMIM
606673
Clinvar variants
Variants in UPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upb1 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: upb1 has been classified as Green List (High Evidence).

29 Jan 2021, 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 Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402; 15385443; 17964839 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM# 613161 Review for gene: UPB1 was set to GREEN