This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Red
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- Mosaic skin disorders - deep sequencing
- Common craniosynostosis syndromes
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hydrocephalus
- Pituitary hormone deficiency
- Monogenic hearing loss
- Osteogenesis imperfecta
- Hypogonadotropic hypogonadism
- DDG2P
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Limb disorders
- Hypophosphataemia or rickets
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR1 was set to Unknown