This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- Fetal anomalies
- VACTERL-like phenotypes
- Clefting
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Likely inborn error of metabolism
- Differences in sex development
- Undiagnosed metabolic disorders
- Mosaic skin disorders - deep sequencing
- Common craniosynostosis syndromes
- Choanal atresia
- Familial hidradenitis suppurativa
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hydrocephalus
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- DDG2P
- Skeletal dysplasia
- Limb disorders
- Arthrogryposis
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: FGFR2 was added gene: FGFR2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR2 was set to Unknown