Activity
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| Miscellaneous Metabolic Disorders v0.65 | UPB1 | Zornitza Stark Marked gene: UPB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.65 | UPB1 | Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.65 | UPB1 | Zornitza Stark Classified gene: UPB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.65 | UPB1 | Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.64 | UPB1 |
Zornitza Stark 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 Added comment: 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 |
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