GMS Musculoskeletal specialist test group 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, 11:52 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
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