Hypogonadotropic hypogonadism (GMS)
Gene: SEMA3FThe rating of this gene has been updated to GREEN and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted, following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
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.Created: 29 Jul 2022, 10:50 a.m. | Last Modified: 29 Jul 2022, 10:50 a.m.
Panel Version: 1.53
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: LiteratureCreated: 8 Jul 2021, 7:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism
Publications
Tag gene-checked tag was added to gene: SEMA3F.
Tag Q3_22_rating was removed from gene: SEMA3F.
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)
Tag Q3_22_rating tag was added to gene: SEMA3F.
Gene: sema3f has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SEMA3F were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism, MONDO:0018555
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