Hypogonadotropic hypogonadism

Gene: SEMA3A

Red List (low evidence)

SEMA3A (semaphorin 3A)
EnsemblGeneIds (GRCh38): ENSG00000075213
EnsemblGeneIds (GRCh37): ENSG00000075213
OMIM: 603961, Gene2Phenotype
SEMA3A is in 2 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.

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.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SEMA3A were set to 24522099; 22927827

2 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jun 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).

2 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia, 614897

2 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia, 614897

2 Jun 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

SEMA3A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Other,Literature,Expert list

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SEMA3A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SEMA3A was created by sleigh