Miscellaneous Metabolic Disorders
Gene: UPB1EnsemblGeneIds (GRCh38): ENSG00000100024
EnsemblGeneIds (GRCh37): ENSG00000100024
OMIM: 606673, Gene2Phenotype
UPB1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: upb1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: upb1 has been classified as Green List (High Evidence).
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