Osteogenesis imperfecta
Gene: FGFR2
FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FGFR2.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory