This Panel is marked as Deleted
Arthrogryposis 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
-
- Limb disorders
- Radial dysplasia
- VACTERL-like phenotypes
- Clefting
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Childhood onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- Differences in sex development
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Common craniosynostosis syndromes
- Choanal atresia
- Arthrogryposis
- Familial hidradenitis suppurativa
- Hydrocephalus
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FGFR2 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FGFR2 was created by Sarah Leigh