GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
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 LesterCreated: 6 Mar 2019, 11:52 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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- None
- Panels with this gene
-
- Radial dysplasia
- VACTERL-like phenotypes
- Likely inborn error of metabolism
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Clefting
- Undiagnosed metabolic disorders
- Limb disorders
- Differences in sex development
- Skeletal dysplasia
- Common craniosynostosis syndromes
- Choanal atresia
- Arthrogryposis
- Familial hidradenitis suppurativa
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Osteogenesis imperfecta
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FGFR2 was added gene: FGFR2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to 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