IUGR and IGF abnormalities
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
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Monogenic hearing loss
- Hypogonadotropic hypogonadism
- Common craniosynostosis syndromes
- Differences in sex development
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypophosphataemia or rickets
- Pituitary hormone deficiency
- Intellectual disability
- Hypogonadotropic hypogonadism (GMS)
- Holoprosencephaly
- Osteogenesis imperfecta
- Limb disorders
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Skeletal dysplasia
- IUGR and IGF abnormalities
- DDG2P
- Monogenic short stature
- Clefting
History Filter Activity
25 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for FGFR1 were set to
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)FGFR1 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)FGFR1 was created by PhilMurray