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| Brain Calcification v1.66 | FOLR1 | Zornitza Stark Marked gene: FOLR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.66 | FOLR1 | Zornitza Stark Gene: folr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.65 | FOLR1 | Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.63 | FOLR1 | Zornitza Stark Classified gene: FOLR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.63 | FOLR1 | Zornitza Stark Gene: folr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | FOLR1 |
Yetong Chen gene: FOLR1 was added gene: FOLR1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 24556562; 27378809 Review for gene: FOLR1 was set to RED Added comment: Limited evidence supports the causal role of the FOLR1 gene in brain calcification since there are only 2 patients reported. PMID 24556562 reports a patient with a homozygous variant of FOLR1 (c.610C>T, p.Arg204) who had bilateral calcification within the basal ganglia. PMID 27378809 reports a patient with a homozygous variant of FOLR1 (c.562C.G, p.Leu188Val) who had brain calcification. Sources: Expert list |
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