Differences in sex development
Gene: SEMA3E

SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Two reviewers recommend Green on the Idiopathic hypogonadotropic hypogonadism panel. Single 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: 21 Sep 2016, 2:12 p.m.

Created: 21 Sep 2016, 2:10 p.m.

Panel version: 0.209

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

CHARGE syndrome 214800

OMIM

608166

Clinvar variants

Variants in SEMA3E

Penetrance

Complete

Publications

15235037

Panels with this gene