ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Biallelic variation in FOLR1 has been definitively associated wtih cerebral folate transport deficiency (an autosomal recessive condition) by the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel as of April 2018 ( Several studies have investigated a possible role for variants in FOLR1 in neural tube defects given its role as a folate receptor gene. Findley et al. (2017) (PMID: 28948692) identified a single heterozygous 5'UTR variant in an individual with myelomeningocele. Of note, none of the carrier parents of individuals with cerebral folate transporter deficiency evaluated as part of the ClinGen gene-disease validity curation (see above) had neural tube defects. At this time, the role of heterozygous FOLR1 variants in risk for neural tube defects is unclear.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity