Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGFR2
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
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.
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 10:12 a.m.
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
Source NHS GMS was added to FGFR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for FGFR2 were set to 7719344; 7987400; 7719345; 8696350; 22387015
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
FGFR2 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
FGFR2 was added to Craniosynostosis syndromespanel. Sources: Expert list
Model of inheritance for gene FGFR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FGFR2 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
FGFR2 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen