Limb disorders
Gene: FGFR2Comment when marking as ready: LADD syndrome associated with variable radial ray defects (at the most severe, bilateral radial aplasia) therefore include.Created: 11 May 2017, 12:07 p.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 7:16 a.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 1
Mode of inheritance for gene FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR2
Victorian Clinical Genetics Services was added to FGFR2. Panel: Limb disorders Phenotypes for gene FGFR2 were set to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Beare-Stevenson cutis gyrata syndrome 123790, Bent bone dysplasia syndrome 614592, Craniofacial-skeletal-dermatologic dysplasia 101600, Craniosynostosis, nonspecific Crouzon syndrome 123500, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Pfeiffer syndrome 101600, Polydactyly
Expert Review Green was added to FGFR2. Panel: Limb disorders UKGTN was added to FGFR2. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to FGFR2. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to FGFR2. Panel: Limb disorders Expert list was added to FGFR2. Panel: Limb disorders Emory Genetics Laboratory was added to FGFR2. Panel: Limb disorders Model of inheritance for gene FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
London South East RGC GSTT was added to FGFR2. Panel: Limb disorders
FGFR2 was added to Limb disorders panel. Sources: Viapath
FGFR2 was created by Ellen McDonagh