| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v1.114 | DHFR | Tommy Li Added phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 for gene: DHFR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1818 | DHFR | Zornitza Stark Marked gene: DHFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1818 | DHFR | Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1818 | DHFR | Zornitza Stark Classified gene: DHFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1818 | DHFR | Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1817 | DHFR |
Zornitza Stark gene: DHFR was added gene: DHFR was added to gNBS. Sources: Expert Review treatable, metabolic tags were added to gene: DHFR. Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHFR were set to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 Review for gene: DHFR was set to GREEN Added comment: Established gene-disease association. Congenital onset. Treatment: folinic acid. Non-genetic confirmatory testing: complete blood count with MCV and CSF 5-methyltetrahydrofolate level. Sources: Expert Review |
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