Hypogonadotropic hypogonadism
Gene: FGFR1
Comment on mode of inheritance: Changed the mode of inheritance from 'Both' to 'Biallelic', before promoting this panel to version 1 due to internal discussion. It may be that studies reporting monoallelic variants in this gene did not examine fully whether variants in other genes had a second variant and therefore monoallelic variants in this gene may not provide a complete diagnosis.Created: 28 Oct 2016, 1:15 p.m.
Comment on mode of inheritance: Based on reports of homozygosity in the variant descriptions on the OMIM page for this geneCreated: 14 Oct 2016, 11:42 a.m.
Comment on publications: PMID: 17235395 reports autosomal dominant effect of FGFR1 and also oligogenic with NSMF or GNRHR responsible for variable phenotype and penetrance. PMID: 12627230 Reports heterozygous patients with variable phenotypes and homozygous subject of consanguineous parents with severe phenotypeCreated: 14 Oct 2016, 11 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 4/4 sources. Two reviewers recommend Green. Numerous variants reportedCreated: 12 Oct 2016, 2:45 p.m.
28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
Mode of inheritance for FGFR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for FGFR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Beare-Stevenson Cutis Gyrata Syndrome, 123790; Crouzon Syndrome, 123500; Pfeiffer Syndrome, 101600; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Pfeiffer syndrome, 101600; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Trigonocephaly 1, 190440; Hartsfield syndrome, 615465; Nonsyndromic Trigonocephaly
Phenotypes for gene FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Beare-Stevenson Cutis Gyrata Syndrome, 123790; Crouzon Syndrome, 123500; Pfeiffer Syndrome, 101600; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Pfeiffer syndrome, 101600; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Trigonocephaly 1, 190440; Hartsfield syndrome, 615465; Nonsyndromic Trigonocephaly
Publications for FGFR1 were set to 17235395; 12627230
Publications for FGFR1 were set to 17235395; 12627230
Publications for FGFR1 were set to 17235395
Publications for FGFR1 were set to 17235395
Phenotypes for gene FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Beare-Stevenson Cutis Gyrata Syndrome, 123790; Crouzon Syndrome, 123500; Pfeiffer Syndrome, 101600; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Pfeiffer syndrome, 101600; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Trigonocephaly 1, 190440; Hartsfield syndrome, 615465; Nonsyndromic Trigonocephaly
This gene has been classified as Green List (High Evidence).
Phenotypes for gene FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Beare-Stevenson Cutis Gyrata Syndrome, 123790; Crouzon Syndrome, 123500; Pfeiffer Syndrome, 101600; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Pfeiffer syndrome, 101600; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Trigonocephaly 1, 190440; Hartsfield syndrome, 615465; Nonsyndromic Trigonocephaly
FGFR1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services
FGFR1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
FGFR1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
FGFR1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: UKGTN
FGFR1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
FGFR1 was created by sleigh