Hypogonadotropic hypogonadism
Gene: FGF8Comment on mode of inheritance: The majority of cases in OMIM are heterozygous, though one report found a homozygous variant.Created: 18 Jul 2016, 9:04 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. Five variants reported, four as heterozygotes and one as homozygote. Three reviewers recommend GreenCreated: 13 Oct 2016, 7:51 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.
Mode of inheritance for FGF8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for FGF8 were set to 18596921
This gene has been classified as Green List (High Evidence).
Phenotypes for gene FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia, 612702;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
This gene has been classified as Green List (High Evidence).
FGF8 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
FGF8 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
FGF8 was created by sleigh
FGF8 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM