This Panel is marked as Internal
ClinGen Gene Validity Curations
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
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 04/05/2016) and DEFINITIVE by Expert curation (dated 12/01/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/3221.Created: 20 Apr 2017, 12:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Green
- Other
- Phenotypes
-
- Achondroplasia
- ORPHA15
- OMIM 100800
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Clefting
- Radial dysplasia
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- DDG2P
- Insulin resistance (including lipodystrophy)
- Monogenic short stature
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Choanal atresia
- Monogenic diabetes
- Early onset or syndromic epilepsy
- Thanatophoric dysplasia
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Limb disorders
- Intellectual disability
- Common craniosynostosis syndromes
- Multiple monogenic benign skin tumours
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Skeletal dysplasia
History Filter Activity
20 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR3 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
20 Apr 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR3 was added to ClinGen Gene Validity Curationspanel. Sources: Other
20 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FGFR3 was created by ellenmcdonagh