Hypogonadotropic hypogonadism (GMS)
Gene: IL17RDAfter NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The additional comments from GLH's is "Possiblity of digenic/oligogenic inheritance."Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:11 p.m.
Panel Version: 2.5
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
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
Tag Q2_21_expert_review was removed from gene: IL17RD. Tag Q2_21_MOI was removed from gene: IL17RD.
Tag Q2_21_expert_review tag was added to gene: IL17RD.
Tag Q2_21_MOI tag was added to gene: IL17RD.
Phenotypes for gene: IL17RD were changed from Hypogonadotropic hypogonadism type 18 (OMIM 615267) to Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267
Publications for gene: IL17RD were set to
Gene: il17rd has been classified as Green List (High Evidence).
Source Wessex and West Midlands GLH was added to IL17RD.
Added phenotypes Hypogonadotropic hypogonadism type 18 (OMIM 615267) for gene: IL17RD
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