ClinGen Dosage Sensitivity Curation Page

FGFR3

Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for Triplosenstive Phenotype

Evidence for triplosensitivity 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.

NOTE:The loss of function score should be used to evaluate deletions, and the triplosensitivity score should be used to evaluated duplications. CNVs encompassing more than one gene must be evaluated in their totality (e.g. overall size, gain vs. loss, presence of other genes, etc). The rating of a single gene within the CNV should not necessarily be the only criteria by which one defines a clinical interpretation. Individual interpretations must take into account the phenotype described for the patient as well as issues of penetrance and expressivity of the disorder. ACMG has published guidelines for the characterization of postnatal CNVs, and these recommendations should be utilized (Genet Med (2011)13: 680-685). Exceptions to these interpretive correlations will occur, and clinical judgment should always be exercised.