Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 WilkieCreated: 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)
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: greenCreated: 5 Mar 2019, 11:21 a.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 10:12 a.m.
Andrew Wilkie (University of Oxford)
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
-
- Radial dysplasia
- VACTERL-like phenotypes
- Clefting
- Intellectual disability
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Likely inborn error of metabolism
- Differences in sex development
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Mosaic skin disorders - deep sequencing
- Common craniosynostosis syndromes
- Choanal atresia
- Fetal anomalies
- Familial hidradenitis suppurativa
- Hydrocephalus
- Monogenic hearing loss
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Limb disorders
- DDG2P
- Arthrogryposis
History Filter Activity
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)
Set publications
Richard Scott (Genomics England Curator)Publications for FGFR2 were set to 7719344; 7987400; 7719345; 8696350; 22387015
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)FGFR2 was added to Craniosynostosis syndromespanel. Sources: Expert list
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FGFR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)FGFR2 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)FGFR2 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen