Neurotransmitter disordersGene: FOLR1
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 10:14 a.m.
Comment on publications: added publications to support phenotype. Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported four cases.
Created: 25 May 2017, 10:13 a.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Diagnosis is critical, as the natural history includes severe neurodegeneration and neurologic impairment, and treatment with folinic acid (it is important to note that response to such treatment is better when initiated in early childhood) can reverse symptoms and improve brain abnormalities and function
Created: 25 May 2017, 9:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for FOLR1 were set to 2044715; 21937992; 19732866;27830117
Phenotypes for FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068;Folate receptor alpha deficiency
This gene has been classified as Green List (High Evidence).
Publications for FOLR1 were set to 2044715; 21937992;19732866
Phenotypes for FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068
FOLR1 was created by Manju
FOLR1 was added to Neurotransmitter disorderspanel. Sources: Literature