ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
12627230 Used two unrelated individuals with >10Mb deletions overlapping by 540 kb to map the KAL2 (FGFR1) gene and then tested the gene for mutations in other patients. Five loss of function mutations identified in unrelated families.
16882753 Loss of function mutation found in patient with hypogonadotropic hypogonadism. Also identified several missense changes in affected individuals.
19489874 Whole gene deletion of FGFR1 found by MLPA in a female patient with sporadic normosmic hypogonadotropic hypogonadism and mild dysmorphism

Haploinsufficiency phenotype comments:

Several loss of function mutations identified in FGFR1 causing Kallmann type 2 or normosmic hypogonadotropic hypogonadism. Intragenic deletions in FGFR1 appear to be rare. Three large deletions including FGFR1 described.

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