Hypogonadotropic hypogonadism
Gene: SEMA3A

SEMA3A (semaphorin 3A)
EnsemblGeneIds (GRCh38): ENSG00000075213
EnsemblGeneIds (GRCh37): ENSG00000075213
OMIM: 603961, Gene2Phenotype
SEMA3A is in 4 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Created: 28 Oct 2016, 1:27 p.m.

Panel version: 0.199

Sarah Leigh (Genomics England Curator)

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.

Created: 2 Jun 2016, 11:58 a.m.

Panel version: 0.117

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 1:04 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:19 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert list
Other
Literature
OMIM

Phenotypes

Hypogonadotropic hypogonadism 16 with or without anosmia, 614897

Tags

monogenic-polygenic

OMIM

603961

Clinvar variants

Variants in SEMA3A

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.

28 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Oct 2016, Gel status: 4