| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hypogonadotropic hypogonadism (GMS) v2.5 | IL17RD |
Catherine Snow Tag Q2_21_expert_review was removed from gene: IL17RD. Tag Q2_21_MOI was removed from gene: IL17RD. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | IL17RD | Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains XX. The additional comments from GLH's is "Possiblity of digenic/oligogenic inheritance."; to: After 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." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | IL17RD | Catherine Snow commented on gene: IL17RD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.42 | IL17RD |
Ivone Leong edited their review of gene: IL17RD: Added comment: 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."; Changed rating: AMBER |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.42 | IL17RD | Ivone Leong Tag Q2_21_expert_review tag was added to gene: IL17RD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | IL17RD | Ivone Leong reviewed gene: IL17RD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | IL17RD | Ivone Leong Tag Q2_21_MOI tag was added to gene: IL17RD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | IL17RD | Ivone Leong Phenotypes for gene: IL17RD were changed from Hypogonadotropic hypogonadism type 18 (OMIM 615267) to Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.39 | IL17RD | Ivone Leong Publications for gene: IL17RD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | IL17RD | Zornitza Stark reviewed gene: IL17RD: Rating: AMBER; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.14 | IL17RD | Ivone Leong Classified gene: IL17RD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.14 | IL17RD | Ivone Leong Gene: il17rd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | IL17RD | Simon Thomas reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | IL17RD | Ivone Leong Source Wessex and West Midlands GLH was added to IL17RD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | IL17RD | Martina Owens reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | IL17RD | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 18 (OMIM 615267) for gene: IL17RD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.3 | IL17RD |
Ivone Leong 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||