Severe Paediatric Disorders
Gene: FGFR2
Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FGFR2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) | Apert syndrome, 101200 (3) | Beare-Stevenson cutis gyrata syndrome, 123790 (3) | Bent bone dysplasia syndrome, 614592 (3) | Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) | Craniosynostosis, nonspecific (3) | Crouzon syndrome, 123500 (3) | Jackson-Weiss syndrome, 123150 (3) | LADD syndrome, 149730 (3) | Pfeiffer syndrome, 101600 (3) | Saethre-Chotzen syndrome, 101400 (3) | Scaphocephaly and Axenfeld-Rieger anomaly (3) | Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | NDCreated: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Mode of inheritance for gene FGFR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene FGFR2 were updated from to 30847515
Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Added phenotypes Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Craniosynostosis, nonspecific; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Saethre-Chotzen syndrome, 101400; Crouzon syndrome, 123500; LADD syndrome, 149730; Bent bone dysplasia syndrome, 614592; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Craniofacial-skeletal-dermatologic dysplasia, 101600; Scaphocephaly and Axenfeld-Rieger anomaly for gene: FGFR2
Source Next Generation Children Project was added to FGFR2.
Source Expert Review Green was added to FGFR2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: FGFR2 was added gene: FGFR2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FGFR2 was set to