Craniosynostosis

Gene: FGFR2

Green List (high evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 24 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Green - prescreened in R99. Truncating/fs variants have not been reported in skeletal phenotypes though splicing and deletions affecting exon 3c have. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Crouzon syndrome, 123500; Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Saethre-Chotzen; Craniosynostosis, nonspecific syndrome, 101400; Gastric cance; Craniosynostosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - 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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 10:12 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypes, but less clinically distinctive presentations are possible.
Created: 14 Sep 2015, 11:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Crouzon syndrome; Pfeiffer syndrome; Apert syndrome; Beare-Stevenson syndrome; bent bone dysplasia; non-syndromic craniosynostosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Crouzon syndrome, 123500
  • Jackson-Weiss syndrome, 123150
  • Beare-Stevenson cutis gyrata syndrome, 123790
  • Pfeiffer syndrome, 101600
  • Apert syndrome, 101200
  • Saethre-Chotzen
  • Craniosynostosis, nonspecific syndrome, 101400
  • Gastric cance
  • Craniosynostosis
OMIM
176943
Clinvar variants
Variants in FGFR2
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

5 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)

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for FGFR2 were set to 7719344; 7987400; 7719345; 8696350; 22387015

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 2

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Feb 2016, Gel status: 2

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for FGFR2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR2 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

FGFR2 was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene FGFR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

FGFR2 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

FGFR2 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen