Hypogonadotropic hypogonadism idiopathic

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

4 reviews

Ivone Leong (Genomics England Curator)

I don't know

In addition to the review by Zornitza Stark (Australian Genomics), PMID: 23643382 states the following:

"Collectively, these data indicate that IL17RD mutations are strongly associated with KS and hearing loss; however, one allelic defect is most likely not sufficient, meaning that additional affected alleles in the same and/or other genes must be present to create the phenotype of KS with hearing loss."
Created: 1 Apr 2021, 1:32 p.m. | Last Modified: 1 Apr 2021, 1:32 p.m.
Panel Version: 1.42
MOI needs to change from Biallelic to Both monoallelic and biallelic (PMID: 23643382)
Created: 29 Mar 2021, 3:40 p.m. | Last Modified: 29 Mar 2021, 3:40 p.m.
Panel Version: 1.40

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Zornitza Stark (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, 8:04 a.m. | Last Modified: 18 Jul 2020, 8:04 a.m.
Panel Version: 1.8

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Simon Thomas (Wessex Regional Genetics Laboratory)

Green List (high evidence)

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267
Tags
Q2_21_expert_review Q2_21_MOI
OMIM
606807
Clinvar variants
Variants in IL17RD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: IL17RD.

29 Mar 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_MOI tag was added to gene: IL17RD.

29 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: IL17RD were changed from Hypogonadotropic hypogonadism type 18 (OMIM 615267) to Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267

29 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IL17RD were set to

22 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: il17rd has been classified as Green List (High Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to IL17RD.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 18 (OMIM 615267) for gene: IL17RD

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: IL17RD was added gene: IL17RD was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: IL17RD was set to BIALLELIC, autosomal or pseudoautosomal