Differences of Sex Development
Gene: IL17RD

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

1 review

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, 8:02 a.m. | Last Modified: 18 Jul 2020, 8:02 a.m.

Panel Version: 0.142

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 18 Jul 2020, 8:02 a.m.
Last Modified: 18 Jul 2020, 8:02 a.m.
Panel version: 0.142

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267

Tags

disputed

OMIM

606807

Clinvar variants

Variants in IL17RD

Penetrance

None

Publications

Panels with this gene