Hypophosphataemia or rickets
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
2 reviews
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Hypophosphatemia ususally presents as part of Osteoglophonic Dysplasia, a disorder that shares skeletal characteristics with both the craniosynostoses and the dwarfing syndromes. OD has distinctive dysmorphology and no reports of isolated hypophosphatemia in patients with activating FGFR1 variants, therefore likely that these patients will be picked up through the skeletal panel. White et al 2005 (PMID: 15625620) - 4 cases from 3 unrelated kindredsCreated: 16 Jan 2019, 1:17 p.m.
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: Demoted from green to red as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).Created: 17 Jan 2019, 2:58 p.m.
Comment on list classification: Promoted from red to green based on the previous comment.Created: 4 Dec 2018, 10:52 a.m.
FGFR1 has been confirmed to cause Osteoglophonic dysplasia by OMIM and Gene2Phenotype. FGFR1 is also a green gene on the Skeletal dysplasia panel (Version 1.129). There are >3 unrelated cases of patients with Osteoglophonic dysplasia with variants in FGFR1.Created: 30 Nov 2018, 4:18 p.m.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Literature
- Phenotypes
-
- Osteoglophonic dysplasia (166250)
- Hypophosphatemia
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb disorders
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Monogenic short stature
- Common craniosynostosis syndromes
- Osteogenesis imperfecta
- Clefting
- Hydrocephalus
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypophosphataemia or rickets
History Filter Activity
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: FGFR1 has been confirmed to ca
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fgfr1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fgfr1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FGFR1 were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to Hypophosphataemia or rickets. Sources: Literature,Emory Genetics Laboratory Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia (166250); Hypophosphatemia