Common craniosynostosis syndromes
Gene: FGFR2
Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypesCreated: 6 May 2019, 10:53 a.m.
Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical teamCreated: 6 May 2019, 10:43 a.m.
Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical teamCreated: 6 May 2019, 10:42 a.m.
This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: FGFR2. FGFR2 common hot spots are noted in the Test Directory.Created: 2 Apr 2019, 4:05 p.m.
Phenotypes for gene: FGFR2 were changed from 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; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410; Apert syndrome OMIM:101200; Beare-Stevenson cutis gyrata syndrome OMIM:123790; Pfeiffer syndrome OMIM:101600; Craniofacial-skeletal-dermatologic dysplasia OMIM:101600; Crouzon syndrome OMIM:123500; Jackson-Weiss syndrome OMIM:123150; Saethre-Chotzen syndrome OMIM:101400; Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579
Mode of pathogenicity for gene: FGFR2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: FGFR2 were changed from 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; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 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; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Phenotypes for gene: FGFR2 were changed from 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; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
gene: FGFR2 was added gene: FGFR2 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown