Common craniosynostosis syndromes
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosisCreated: 6 May 2019, 10:49 a.m.
This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: FGFR1. FGFR1 common hot spots are noted in the Test Directory.Created: 2 Apr 2019, 4:05 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert list
- Expert Review Green
- Phenotypes
-
- Jackson-Weiss syndrome OMIM:123150
- Osteoglophonic dysplasia OMIM:166250
- Pfeiffer syndrome OMIM:101600
- Trigonocephaly 1 OMIM:190440
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Limb disorders
- DDG2P
- Intellectual disability
- Hypogonadotropic hypogonadism (GMS)
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600
Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)Mode of pathogenicity for gene: FGFR1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown