Cerebral folate deficiency
Gene: FOLR1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral folate transport deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported four cases.Created: 6 Dec 2016, 3:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral folate transport deficiency
Publications
Promoted after searching for additional genes, none found (8/12/2016)
This gene has been classified as Green List (High Evidence).
Publications for FOLR1 were set to 19732866; 27604308; 27743887; 27328863
Publications for FOLR1 were set to 19732866; 27604308; 27743887
Publications for FOLR1 were set to 19732866; 27604308
Publications for FOLR1 were set to 19732866
FOLR1 was added to Cerebral folate deficiencypanel. Sources: Emory Genetics Laboratory
FOLR1 was added to Cerebral folate deficiencypanel. Sources: Illumina TruGenome Clinical Sequencing Services
FOLR1 was added to Cerebral folate deficiencypanel. Sources: Radboud University Medical Center, Nijmegen