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Limb disorders

Gene: FGFR2

Green List (high evidence)

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.

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)

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

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

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FGFR2. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR2 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FGFR2 was created by Ellen McDonagh