Hypogonadotropic hypogonadismGene: FSHB
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. Five variants reported in at least seven cases (homozygous or compound heterozygous). Two expert reviewers recommend Green
Created: 13 Oct 2016, 7:56 a.m.
Comment on publications: At least four LOF variants identified in different families
Created: 26 May 2016, 9:03 a.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.
Publications for FSHB were set to 9806482; 20488225; 12161499
Phenotypes for gene FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia 229070;Isolated Follicle-Stimulating Hormone Deficiency
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FSHB was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services
FSHB was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
FSHB was created by sleigh
FSHB was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM