This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: FGFR2; Inheritance: AD; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Pfeiffer syndrome; OMIM phenotype MIM No.: 101600; Number of cases: 1Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review red
- Literature
- Phenotypes
-
- Nephropathy of unknown origin
- MIM 101600
- Pfeiffer syndrome
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- Panels with this gene
-
- Arthrogryposis
- Skeletal dysplasia
- Clefting
- Radial dysplasia
- Multiple monogenic benign skin tumours
- VACTERL-like phenotypes
- Monogenic hearing loss
- Limb disorders
- Deafness and congenital structural abnormalities
- Fetal anomalies
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Choanal atresia
- Familial hidradenitis suppurativa
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Common craniosynostosis syndromes
- Likely inborn error of metabolism
- Osteogenesis imperfecta
- Intellectual disability
- Differences in sex development
History Filter Activity
2 Jul 2019, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to FGFR2.
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FGFR2 was added gene: FGFR2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR2 were set to Nephropathy of unknown origin; MIM 101600; Pfeiffer syndrome