Hypogonadotropic hypogonadism

Gene: SEMA3E

Red List (low evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Only one pathogenic variant reported in this phenotype
Created: 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.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome, 214800

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Other
Phenotypes
  • CHARGE syndrome, 214800
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

13 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jun 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SEMA3E were set to CHARGE syndrome, 214800

2 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Jun 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

SEMA3E was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Other,Literature

2 Jun 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

SEMA3EAll sources for gene: SEMA3E were removed

24 May 2016, Gel status: 0

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

24 May 2016, Gel status: 0

Added New Source

Mehul Dattani (UCL Institute of Child Health)

SEMA3E was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:

24 May 2016, Gel status: 0

Created

Mehul Dattani (UCL Institute of Child Health)

SEMA3E was created by mdattani