Inherited white matter disordersGene: FOLR1
Associated with phenotype in OMIM and G2P / DD. Four variants reported, two as compound heterozygotes in two German siblings and one Gambian child. The remaining two variants were found one each as homozygotes (one in a Spanish and the other in an Italian patient). Also mentioned in Update on Leukodystrophies: A Historical Perspective and Adapted Definition (PMID 27564080).
Created: 1 Sep 2016, 12:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodegeneration due to cerebral folate transport deficiency 613068
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
FOLR1 was created by sleigh
FOLR1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN