GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD, craniosynostosis syndromes gp of SD, Limb hypoplasia-reduction defects gp of SD. Variants also associated with Encephalocraniocutaneous lipomatosis, (somatic mosaism) 613001;Hypogonadotropic hypogonadism 2 with or without anosmia 147950. Variants in disorders with SD are GOF missense variants. Pfeiffer & Jackson-Weiss: P252R only. LOF associated with a different disorder (147950). Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hartsfield syndrome 615465; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Osteoglophonic dysplasia 166250
- Hartsfield syndrome 615465
- Jackson-Weiss syndrome 123150
- Pfeiffer syndrome 101600
- Trigonocephaly 1 190440
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Limb disorders
- Differences in sex development
- Skeletal dysplasia
- Monogenic short stature
- Common craniosynostosis syndromes
- Hydrocephalus
- Osteogenesis imperfecta
- Intellectual disability
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Hypophosphataemia or rickets
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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; Hartsfield syndrome 615465; Jackson-Weiss syndrome 123150; Pfeiffer syndrome 101600; Trigonocephaly 1 190440