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Skeletal dysplasia

Gene: FGFR2

Green List (high evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 25 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

craniosynostosis syndromes gp of SD, polydactyly-syndactyly-triphalangism SD gp. Truncating/fs variants have not been reported in skeletal phenotypes though splicing and deletions affecting exon 3c have.Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 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

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FGFR2; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Craniosynostosis, nonspecific Crouzon syndrome 123500
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Pfeiffer syndrome 101600
  • Gastric cancer, somatic 613659
  • Jackson-Weiss syndrome 123150
  • LADD syndrome 149730
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Bent bone dysplasia syndrome 614592
OMIM
176943
Clinvar variants
Variants in FGFR2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific Crouzon syndrome 123500; Craniofacial-skeletal-dermatologic dysplasia 101600; Pfeiffer syndrome 101600; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Bent bone dysplasia syndrome 614592 for gene: FGFR2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FGFR2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

12 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for 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

12 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FGFR2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

FGFR2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FGFR2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FGFR2 was created by sleigh