Hypogonadotropic hypogonadism
Gene: SEMA3AComment on list classification: Changed the rating from green to red, before promoting this panel to version 1 due to internal discussion. Because this gene only has monoallelic variants reported, it may be that studies did not examine fully whether variants in other genes had a second variant and therefore monoallelic variants in this gene may not provide a complete diagnosis.Created: 28 Oct 2016, 1:27 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 0/4 sources. Three reviewers recommend Green. At least five heterozygous variants reported and also digenic with FGFR1, PROK2, PROKR2 & KAL1 variants.Created: 13 Oct 2016, 2:20 p.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).
Publications for SEMA3A were set to 24522099; 22927827
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia, 614897
Phenotypes for gene SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia, 614897
SEMA3A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Other,Literature,Expert list
SEMA3A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
SEMA3A was created by sleigh