GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGFR2
craniosynostosis syndromes gp of SD, polydactyly-syndactyly-triphalangism SD gp. Truncating/fs variants have not been reported in skeletal phenotypes though splicing and deletions affecting exon 3c have.Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
gene: FGFR2 was added gene: FGFR2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific Crouzon syndrome 123500; Craniofacial-skeletal-dermatologic dysplasia 101600; Pfeiffer syndrome 101600; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Bent bone dysplasia syndrome 614592