Choanal atresiaGene: FGFR2
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported
Created: 11 Aug 2016, 6:58 a.m.
Comment on phenotypes: Variants also reported in Bent bone dysplasia syndrome 614592, Crouzon syndrome 123500, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Saethre-Chotzen syndrome 101400, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation 609579
Created: 11 Aug 2016, 6:56 a.m.
Promoted to version 1, 11th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for FGFR2 were set to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific
Mode of inheritance for FGFR2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
FGFR2 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FGFR2 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing