Hypogonadotropic hypogonadism
Gene: SEMA3EComment on list classification: Only one pathogenic variant reported in this phenotypeCreated: 13 Oct 2016, 2:52 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Two reviewers recommend Green. Variant found in two brothers with Kallmann syndrome, in vitro evidence for LOF of this variant and strong evidence for involvement of this gene from mouse model for phenotypic effect (PMID 25985275)Created: 2 Jun 2016, 12:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome, 214800
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).
Phenotypes for SEMA3E were set to CHARGE syndrome, 214800
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SEMA3E was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Other,Literature
SEMA3EAll sources for gene: SEMA3E were removed
This proposed gene was validated and added to this panel
SEMA3E was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
SEMA3E was created by mdattani