Limb disorders
Gene: FGFR2

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (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.

Created: 11 May 2017, 12:07 p.m.

Panel version: Imported from Radial dysplasia panel version 0.97

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.

Created: 12 Jul 2016, 7:16 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.472

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:04 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Victorian Clinical Genetics Services
Emory Genetics Laboratory
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

Polydactyly
LADD syndrome 149730
LADD syndrome, 149730
Craniosynostosis, nonspecific Crouzon syndrome 123500
short radius
Craniofacial-skeletal-dermatologic dysplasia 101600
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Gastric cancer, somatic 613659
Beare-Stevenson cutis gyrata syndrome 123790
Jackson-Weiss syndrome 123150
Pfeiffer syndrome 101600
Bent bone dysplasia syndrome 614592
Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
Apert syndrome 101200

OMIM

176943

Clinvar variants

Variants in FGFR2

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

13 Aug 2018, Gel status: 4