This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- VACTERL-like phenotypes
- Likely inborn error of metabolism
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Clefting
- Undiagnosed metabolic disorders
- Limb disorders
- Differences in sex development
- Skeletal dysplasia
- Common craniosynostosis syndromes
- Choanal atresia
- Arthrogryposis
- Familial hidradenitis suppurativa
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Osteogenesis imperfecta
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: FGFR2 was added gene: FGFR2 was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red Mode of inheritance for gene: FGFR2 was set to Unknown