Hypogonadotropic hypogonadismGene: SEMA7A
Comment when marking as ready: Not associated with IHH phenotype in OMIM or G2P. Found in 0/4 sources. No reviewer’s comments. Two Htz SEMA7A variants reported: c.442C>T (p.Arg148Trp) found in congenital normosomic IHH patient who was also Htz for KISS1R c.1167C>A (p.Cys389*) and SEMA7A variant c.1421G>A (p.Arg474Gln), found in a Kallmann Syndrome patient who was also Htz for splice site affecting KAL1 variant. Sema7A−/− mice have reduced fertility (PMID 24522099)
Created: 14 Oct 2016, 9:59 a.m.
28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
This gene has been classified as Red List (Low Evidence).
SEMA7A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature
SEMA7A was created by sleigh