| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v1.1 | UMPS | Zornitza Stark Tag for review was removed from gene: UMPS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1981 | UMPS | Zornitza Stark Marked gene: UMPS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1981 | UMPS | Zornitza Stark Gene: umps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1981 | UMPS | Zornitza Stark Classified gene: UMPS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1981 | UMPS | Zornitza Stark Gene: umps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1980 | UMPS |
Zornitza Stark Tag for review tag was added to gene: UMPS. Tag treatable tag was added to gene: UMPS. Tag metabolic tag was added to gene: UMPS. |
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| BabyScreen+ newborn screening v0.1974 | UMPS |
Lilian Downie changed review comment from: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Treat uridine Very rare only 20 cases but treatable. Sources: Expert list; to: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Better check with John who wrote the paper!! PMID: 25030255 Treat uridine Very rare only 20 cases but treatable. Sources: Expert list |
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| BabyScreen+ newborn screening v0.1974 | UMPS |
Lilian Downie gene: UMPS was added gene: UMPS was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760 Phenotypes for gene: UMPS were set to Orotic aciduria MIM#258900 Review for gene: UMPS was set to GREEN Added comment: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Treat uridine Very rare only 20 cases but treatable. Sources: Expert list |
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