Disorders of sex development

Gene: SEMA3E

Red List (low evidence)

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.

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
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

21 Sep 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SEMA3E were set to 15235037

21 Sep 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SEMA3E were set to CHARGE syndrome 214800

25 May 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

SEMA3E was added to Disorders of sex developmentpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

25 May 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

SEMA3EAll sources for gene: SEMA3E were removed

25 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SEMA3E was added to Disorders of sex developmentpanel. Sources:

25 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SEMA3E was created by sleigh