Hypogonadotropic hypogonadism
Gene: IL17RDComment 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, 1:16 p.m.
Insufficient evidence to report in diagnostic context as monogenic currently.Created: 7 Jun 2016, 1:23 p.m.
Publications
Comment on mode of inheritance: Based on reports of homozygosity in the variant descriptions on the OMIM page for this geneCreated: 14 Oct 2016, 11:48 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Three reviewers recommend Green. Variants found in 8 unrelated subjects (2 homozygous, 4 heterozygous, 2 digenic (IL17RD c.1136A>G p.Tyr379Cys & FGFR1 c.1042G>A p.Gly348Arg, IL17RD c.2204C>T p.Ala735Val & KISS1R c.581C>A p.Ala194Asp), in vitro studies also support involvement with IHH with hearing loss PMID 23643382Created: 12 Oct 2016, 2:09 p.m.
Comment on list classification: Six unrelated cases of monogenic and two of polygenic inheritanceCreated: 12 Oct 2016, 9:45 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 IL17RD was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for IL17RD was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267
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).
IL17RD was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Other,Literature
IL17RDAll sources for gene: IL17RD were removed
Phenotypes for gene IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia, 615267
IL17RD was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen
IL17RD was created by sleigh