Hypogonadotropic hypogonadism
Gene: IL17RDEnsemblGeneIds (GRCh38): ENSG00000144730
EnsemblGeneIds (GRCh37): ENSG00000144730
OMIM: 606807, Gene2Phenotype
IL17RD is in 3 panels
6 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Richard Scott (Genomics England Curator)
Insufficient evidence to report in diagnostic context as monogenic currently.Created: 7 Jun 2016, 1:23 p.m.
Publications
Sarah Leigh (Genomics England Curator)
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.
Richard Quinton (Newcastle University)
Mehul Dattani (UCL Institute of Child Health)
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
- Literature
- Phenotypes
-
- Hypogonadotropic hypogonadism 18 with or without anosmia 615267
- Tags
- OMIM
- 606807
- Clinvar variants
- Variants in IL17RD
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IL17RD was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IL17RD was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)IL17RD was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Other,Literature
clearsources
Sarah Leigh (Genomics England Curator)IL17RDAll sources for gene: IL17RD were removed
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia, 615267
Added New Source
Sarah Leigh (Genomics England Curator)IL17RD was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)IL17RD was created by sleigh