Common craniosynostosis syndromes
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypesCreated: 6 May 2019, 10:53 a.m.
Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical teamCreated: 6 May 2019, 10:43 a.m.
Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical teamCreated: 6 May 2019, 10:42 a.m.
This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: FGFR2. FGFR2 common hot spots are noted in the Test Directory.Created: 2 Apr 2019, 4:05 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert list
- Expert Review Green
- Phenotypes
-
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410
- Apert syndrome OMIM:101200
- Beare-Stevenson cutis gyrata syndrome OMIM:123790
- Pfeiffer syndrome OMIM:101600
- Craniofacial-skeletal-dermatologic dysplasia OMIM:101600
- Crouzon syndrome OMIM:123500
- Jackson-Weiss syndrome OMIM:123150
- Saethre-Chotzen syndrome OMIM:101400
- Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- 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
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Intellectual disability
- Differences in sex development
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Familial hidradenitis suppurativa
- Likely inborn error of metabolism
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410; Apert syndrome OMIM:101200; Beare-Stevenson cutis gyrata syndrome OMIM:123790; Pfeiffer syndrome OMIM:101600; Craniofacial-skeletal-dermatologic dysplasia OMIM:101600; Crouzon syndrome OMIM:123500; Jackson-Weiss syndrome OMIM:123150; Saethre-Chotzen syndrome OMIM:101400; Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579
Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)Mode of pathogenicity for gene: FGFR2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: FGFR2 was added gene: FGFR2 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown