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  2. Intellectual_disability
  3. FGFR2
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Intellectual_disability

Gene: FGFR2

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

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Crouzon syndrome, 123500Jackson-Weiss syndrome, 123150Beare-Stevenson cutis gyrata syndrome, 123790Pfeiffer syndrome, 101600Apert syndrome, 101200Saethre-Chotzen syndrome, 101400Craniosynostosis, nonspecificGastric cancer, somatic, 613659Craniofacial-skeletal-dermatologic dysplasia, 101600Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410Scaphocephaly and Axenfeld-Rieger anomalyLADD syndrome, 149730Scaphocephaly, maxillary retrusion, and mental retardation, 609579Bent bone dysplasia syndrome, 614592
OMIM
176943
Clinvar variants
Variants in FGFR2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR2 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen