This Panel is marked as Internal
Non-Fanconi anaemia
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 Savage (Congenica Ltd)
Phenotypes
LADD syndrome
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Intellectual disability
- Differences in sex development
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Familial hidradenitis suppurativa
- Likely inborn error of metabolism
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory