Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGFR1
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
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.
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.
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
Source NHS GMS was added to FGFR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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
Publications for FGFR1 were set to 7874169; 15625620
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
FGFR1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
FGFR1 was added to Craniosynostosis syndromespanel. Sources: Expert list
FGFR1 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services