Skeletal dysplasia
Gene: FGFR1
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, 11:44 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
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; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 7:07 a.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteoglophonic dysplasia 166250; Hartsfield syndrome 615465; Jackson-Weiss syndrome 123150; Pfeiffer syndrome 101600; Trigonocephaly 1 190440 for gene: FGFR1
Source NHS GMS was added to FGFR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for FGFR1 were set to Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Mode of inheritance for FGFR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FGFR1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FGFR1 was created by sleigh
FGFR1 was added to Unexplained skeletal dysplasiapanel. Sources: