Research panel - Severe Paediatric Disorders
Gene: FGFR2

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 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

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

30847515

Panels with this gene