Hypogonadotropic hypogonadism
Gene: KISS1
Only one reported family to date; insufficient evidence for diagnostic reporting currently.Created: 7 Jun 2016, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614842
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. Three reviewers recommend GreenCreated: 26 May 2016, 9:13 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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene KISS1 were set to Hypogonadotropic hypogonadism 13 with or without anosmia, 614842; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
KISS1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
KISS1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
KISS1 was created by sleigh
KISS1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM