This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Sources
-
- Literature
- Phenotypes
-
- Nevus, epidermal, somatic, 162900
- Solomon syndrome
- Epidermal nevus syndrome (ENS)
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Radial dysplasia
- Monogenic diabetes
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Thanatophoric dysplasia
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)FGFR3 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)FGFR3 was created by rfoulger