Osteogenesis imperfecta
Gene: FGFR3
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 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
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Limb disorders
- Arthrogryposis
- Early onset or syndromic epilepsy
- Radial dysplasia
- Fetal anomalies
- VACTERL-like phenotypes
- Clefting
- Paediatric or syndromic cardiomyopathy
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Insulin resistance (including lipodystrophy)
- Mosaic skin disorders - deep sequencing
- Common craniosynostosis syndromes
- Choanal atresia
- Thanatophoric dysplasia
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hydrocephalus
- Monogenic hearing loss
- Osteogenesis imperfecta
- DDG2P
- Monogenic diabetes
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FGFR3.
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)FGFR3 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory