Radial dysplasia
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FGFR2 was added to Radial dysplasiapanel. Source: Expert list
FGFR2 was created by rfoulger
FGFR2 was added to Radial dysplasiapanel. Sources: Other