Skeletal dysplasia
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 20 panels
1 review
Chern Lim (Victorian Clinical Genetics Services)
AD inheritance is well established for this gene. Gain of function had been shown for at least several missense (PMIDs: 29848297, 32879300). Loss of function-type variants have also been reported in ClinVar.
AR has been reported in only one patient: homozygous p.(Arg255Gln), ectrodactyly and acinar dysplasia (PMID: 27323706). The variant is heterozygous in both healthy parents. Functional study showed result consistent with loss of function.Created: 14 Sep 2021, 6:59 a.m. | Last Modified: 14 Sep 2021, 6:59 a.m.
Panel Version: 0.9147
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Craniosynostosis, nonspecific Crouzon syndrome 123500
- Pfeiffer syndrome 101600
- Beare-Stevenson cutis gyrata syndrome 123790
- Apert syndrome 101200
- Gastric cancer, somatic 613659
- Craniofacial-skeletal-dermatologic dysplasia 101600
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
- Bent bone dysplasia syndrome 614592
- Jackson-Weiss syndrome 123150
- LADD syndrome 149730
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal Dysplasia_Fetal
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Choanal atresia
- Arthrogryposis
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Callosome
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGFR2 was added gene: FGFR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to Craniosynostosis, nonspecific Crouzon syndrome 123500; Pfeiffer syndrome 101600; Beare-Stevenson cutis gyrata syndrome 123790; Apert syndrome 101200; Gastric cancer, somatic 613659; Craniofacial-skeletal-dermatologic dysplasia 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Bent bone dysplasia syndrome 614592; Jackson-Weiss syndrome 123150; LADD syndrome 149730