This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
Gene: FGFR1
FGFR1 (fibroblast growth factor receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- DDG2P
- Mosaic skin disorders - deep sequencing
- Limb disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Hydrocephalus
- Intellectual disability
- Hypophosphataemia or rickets
- Common craniosynostosis syndromes
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Monogenic short stature
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Hypogonadotropic hypogonadism (GMS)
- Differences in sex development
- Clefting
- Holoprosencephaly
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FGFR1 was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)FGFR1 was created by Sarah Leigh