Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: IL17RD
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
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
Gene: il17rd has been classified as Red List (Low Evidence).
Gene: il17rd has been classified as Red List (Low Evidence).
Publications for gene: IL17RD were set to
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