ClinGen Dosage Sensitivity Curation Page

FGFR3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

While gain of function mutations in FGFR3 contribute to several conditions (Muenke, Crouzon, etc.), there are no case reports with deletion/loss of function mutations to determine whether FGFR3 is a haploinsufficient locus.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for gain of function phenotype
PubMed ID Description
21815251 Cyr (2011): Report of a de novo duplication including CRIPAK, SLBP,TACC3, FGFR3, and LETM1. It is not clear if FGFR3 triplosensitivity contributes to the phenotype observed.
20197130 Hannes (2010): Report of a de novo duplication including SLBP,TACC3, FGFR3, LETM1, and WHSCR1 (complicated also by an inversion in the region). It is not clear if FGFR3 triplosensitivity contributes to the phenotype observed.

Triplosensitivity phenotype comment:

More publications of focal duplications are needed to determine triplosensitivity of FGFR3, specifically. The case reports found are listed here only for correlation with similar cases, not as conclusive evidence of triplosensitivity.