This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- Multiple monogenic benign skin tumours
- VACTERL-like phenotypes
- Monogenic hearing loss
- Deafness and congenital structural abnormalities
- Arthrogryposis
- DDG2P
- Insulin resistance (including lipodystrophy)
- Paediatric or syndromic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Choanal atresia
- Monogenic diabetes
- Limb disorders
- Thanatophoric dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Intellectual disability
- Early onset or syndromic epilepsy
- Common craniosynostosis syndromes
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Monogenic short stature
- Clefting
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FGFR3 was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FGFR3 was created by Sarah Leigh