This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- 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
- Undiagnosed metabolic disorders
- Mosaic skin disorders - deep sequencing
- Choanal atresia
- Limb disorders
- Familial hidradenitis suppurativa
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Intellectual disability
- Common craniosynostosis syndromes
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Clefting
- Likely inborn error of metabolism
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FGFR2 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)FGFR2 was created by Sarah Leigh