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| BabyScreen+ newborn screening v1.114 | FOLR1 |
Tommy Li Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 for gene: FOLR1 Publications for gene FOLR1 were updated from 19732866; 30420205; 27743887 to 30420205; 27743887; 19732866 |
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| BabyScreen+ newborn screening v0.1952 | FOLR1 | Zornitza Stark Marked gene: FOLR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1952 | FOLR1 | Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1952 | FOLR1 | Zornitza Stark Classified gene: FOLR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1952 | FOLR1 | Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1951 | FOLR1 |
Zornitza Stark gene: FOLR1 was added gene: FOLR1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, metabolic tags were added to gene: FOLR1. Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887 Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Review for gene: FOLR1 was set to GREEN Added comment: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function. Treatment: folinic acid Non-genetic confirmatory testing: cerebrospinal fluid 5-methyltetrahydrofolate level Sources: Expert list |
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