Limb disorders
Gene: FGFR1Comment 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
Ana Beleza: Tier 1
Victorian Clinical Genetics Services was added to FGFR1. Panel: Limb disorders Phenotypes for gene 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, Polydactyly
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
Expert Review Green was added to FGFR1. Panel: Limb disorders UKGTN was added to FGFR1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to FGFR1. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to FGFR1. Panel: Limb disorders Expert list was added to FGFR1. Panel: Limb disorders Emory Genetics Laboratory was added to FGFR1. Panel: Limb disorders Model of inheritance for gene FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to FGFR1. Panel: Limb disorders
FGFR1 was added to Limb disorders panel. Sources: Viapath
FGFR1 was created by Ellen McDonagh