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| Neurotransmitter Defects v0.32 | FOLR1 | Zornitza Stark Marked gene: FOLR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.32 | FOLR1 | Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.32 | FOLR1 | Zornitza Stark Classified gene: FOLR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.32 | FOLR1 | Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.31 | FOLR1 |
Zornitza Stark changed review comment from: Folate is a neurotransmitter precursor. Treatable condition. Sources: Expert list; to: 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. Sources: Expert list |
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| Neurotransmitter Defects v0.31 | FOLR1 |
Zornitza Stark gene: FOLR1 was added gene: FOLR1 was added to Neurotransmitter Defects. Sources: Expert list 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. Treatable condition. Sources: Expert list |
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