BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: FGFR2

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; Activating; Uncertain

Created: 7 Feb 2017, 4:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Crouzon syndrome, 123500; Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Craniosynostosis, nonspecific; Gastric cancer, somatic, 613659; Craniofacial-skeletal-dermatologic dysplasia, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Scaphocephaly and Axenfeld-Rieger anomaly; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Bent bone dysplasia syndrome, 614592

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice