| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism (GMS) v2.5 | SEMA3F | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SEMA3F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SEMA3F | Catherine Snow Tag Q3_22_rating was removed from gene: SEMA3F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SEMA3F | Catherine Snow commented on gene: SEMA3F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.4 | SEMA3F |
Catherine Snow Source Expert Review Green was added to SEMA3F. Source NHS GMS was added to SEMA3F. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Tag Q3_22_rating tag was added to gene: SEMA3F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Classified gene: SEMA3F as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the expert review there is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Gene: sema3f has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.51 | SEMA3F | Ivone Leong Phenotypes for gene: SEMA3F were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism, MONDO:0018555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.43 | SEMA3F |
Zornitza Stark gene: SEMA3F was added gene: SEMA3F was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3F were set to 33495532 Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism Review for gene: SEMA3F was set to GREEN Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.43 | PLXNA3 |
Zornitza Stark gene: PLXNA3 was added gene: PLXNA3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLXNA3 were set to 33495532 Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism Review for gene: PLXNA3 was set to GREEN Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants. In 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3. Sources: Literature |
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