Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Green (codon P252 only) -P252 prescreened in R99, LOF variants are associated with hpogonadotropic hypogonadism 2 with or without anosmia. Other GOF variants associated with other disorders that do not have CSS. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FGFR1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Richard Scott (Genomics England Curator)
Comment on mode of pathogenicity: Only a very limited number of gain of function mutations are associated with craniosynostosis; heterozygous loss-of-function associated with hypotrophic hypogonadism, anosmia and cleft lip/palateCreated: 1 Feb 2016, 11:03 a.m.
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 11:03 a.m.
Andrew Wilkie (University of Oxford)
Only a very limited number of gain of function mutations are associated with craniosynostosis; heterozygous loss-of-function associated with hypotrophic hypogonadism, anosmia and cleft lip/palate. Biallelic mutations in Hartsfield syndromeCreated: 14 Sep 2015, 11:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pfeiffer syndrome (mild); osteoglophonic dysplasia
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - 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, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Craniosynostosis
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- Complete
- Publications
- 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
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
- Differences in sex development
- Clefting
- Monogenic short stature
- Common craniosynostosis syndromes
- Osteogenesis imperfecta
- Hydrocephalus
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Hypophosphataemia or rickets
- Intellectual disability
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to FGFR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set mode of pathogenicity
Richard Scott (Genomics England Curator)Mode of pathogenicity for FGFR1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set publications
Richard Scott (Genomics England Curator)Publications for FGFR1 were set to 7874169; 15625620
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)FGFR1 was added to Craniosynostosis syndromespanel. Sources: Expert list
Added New Source
Eik Haraldsdottir (Genomics England)FGFR1 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services