Radial dysplasia
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment 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.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 7:16 a.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- LADD syndrome, 149730
- Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
- short radius
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Intellectual disability
- Differences in sex development
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Familial hidradenitis suppurativa
- Likely inborn error of metabolism
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)FGFR2 was added to Radial dysplasiapanel. Source: Expert list
Created
Rebecca Foulger (Genomics England curator)FGFR2 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)FGFR2 was added to Radial dysplasiapanel. Sources: Other