Hypogonadotropic hypogonadism

Gene: IL17RD

Green List (high evidence)

IL17RD (interleukin 17 receptor D)
EnsemblGeneIds (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)

Red List (low evidence)

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 gene
Created: 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 23643382
Created: 12 Oct 2016, 2:09 p.m.
Comment on list classification: Six unrelated cases of monogenic and two of polygenic inheritance
Created: 12 Oct 2016, 9:45 a.m.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

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
monogenic-polygenic
OMIM
606807
Clinvar variants
Variants in IL17RD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

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.

28 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IL17RD was changed to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IL17RD was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jun 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

IL17RD was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Other,Literature

1 Jun 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

IL17RDAll sources for gene: IL17RD were removed

1 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia, 615267

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

IL17RD was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IL17RD was created by sleigh