Clefting
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
Helen Brittain (Genomics England Curator)
Two recurrent missense mutationsCreated: 26 May 2017, 7:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
APERT SYNDROME
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- APERT SYNDROME
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- VACTERL-like phenotypes
- 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
- Clefting
- Undiagnosed metabolic disorders
- Limb disorders
- Skeletal dysplasia
- Common craniosynostosis syndromes
- Choanal atresia
- Arthrogryposis
- Familial hidradenitis suppurativa
- Hydrocephalus
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FGFR2 was created by ellenmcdonagh