Monogenic short stature
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
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Common craniosynostosis syndromes
- Pituitary hormone deficiency
- Skeletal dysplasia
- Osteogenesis imperfecta
- Monogenic short stature
- Hypophosphataemia or rickets
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly
- Fetal anomalies
- Mosaic skin disorders - Deep sequencing
- Hypogonadotropic hypogonadism (GMS)
- Hydrocephalus
- Differences in sex development
- Intellectual disability
- Monogenic hearing loss
- Limb disorders
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- DDG2P
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Arina Puzriakova (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to 22319038