Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: IL17RD

Red List (low evidence)

IL17RD (interleukin 17 receptor D)
EnsemblGeneIds (GRCh38): ENSG00000144730
EnsemblGeneIds (GRCh37): ENSG00000144730
OMIM: 606807, Gene2Phenotype
IL17RD is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Six heterozygous and two homozygous individuals reported originally. Two of the heterozygous individuals in the original publication also had variants in other IHH genes. Of the heterozygous variants, p.Lys131Thr is present in 232 heterozygotes in gnomad, p.Tyr379Cys is present in 26 heterozygotes, p.Ala735Val is present in 9, p.Ser468Leu is present in 8. These population frequencies are not compatible with a cause for rare Mendelian disease and call into question the association between mono-allelic variants in this gene and IHH. Additional six individuals reported with heterozygous variants in PMID 32389901, but note 5 inherited from unaffected parents.
Created: 18 Jul 2020, 8:06 a.m. | Last Modified: 18 Jul 2020, 8:06 a.m.
Panel Version: 0.3392

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267

Publications

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

Insufficient evidence for a monogenic association between IL17RD and hypogonadotropic hypogonadism. Heterozygous and homozygous variants identified in subjects with several inherited from an unaffected parent. Some inconclusive functional studies. Some of the variants are common in gnomAD.
Created: 6 Jul 2020, 5:29 a.m. | Last Modified: 6 Jul 2020, 5:29 a.m.
Panel Version: 0.19

Mode of inheritance
Unknown

Phenotypes
Hypogonadotropic hypogonadism 18 with or without anosmia (MIM# 615267)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 18 with or without anosmia 615267
OMIM
606807
Clinvar variants
Variants in IL17RD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: il17rd has been classified as Red List (Low Evidence).

9 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: il17rd has been classified as Red List (Low Evidence).

9 Jul 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: IL17RD were set to

24 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IL17RD was added gene: IL17RD was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: IL17RD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267