Hypogonadotropic hypogonadism
Gene: KISS1RComment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. Seven variants reported as follows: two homozygotes, four as conmpound heterozygotes and one digenic with an IL17RD variant. Three reviewers recommend GreenCreated: 12 Oct 2016, 2:40 p.m.
Phenotypes for gene: KISS1R were changed from Hypogonadotropic hypogonadism 8 with or without anosmia, 614837; Precocious puberty, central, 1, (AD), 176400 to Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837; ?Precocious puberty, central, 1, OMIM:176400
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 KISS1R were set to 12944565; 17164310; 14573733; 18772143; 23643382
Publications for KISS1R were set to 12944565; 17164310; 14573733; 18772143
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837; Precocious puberty, central, 1, (AD), 176400
Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837; Precocious puberty, central, 1, (AD), 176400
KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Other
KISS1RAll sources for gene: KISS1R were removed
This gene has been classified as Green List (High Evidence).
Publications for KISS1R were set to 12944565; 17164310; 14573733
Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Precocious puberty,central,1,176400
Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Precocious puberty,central,1,176400
KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
KISS1R was created by sleigh