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Severe Paediatric Disorders

Gene: FGFR2

Green List (high evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 25 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

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 | ND
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Saethre-Chotzen syndrome, 101400
  • Apert syndrome, 101200
  • 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
OMIM
176943
Clinvar variants
Variants in FGFR2
Penetrance
None
Publications