Hypogonadotropic hypogonadism

Gene: SEMA7A

Red List (low evidence)

SEMA7A (semaphorin 7A (John Milton Hagen blood group))
EnsemblGeneIds (GRCh38): ENSG00000138623
EnsemblGeneIds (GRCh37): ENSG00000138623
OMIM: 607961, Gene2Phenotype
SEMA7A is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with IHH phenotype in OMIM or G2P. Found in 0/4 sources. No reviewer’s comments. Two Htz SEMA7A variants reported: c.442C>T (p.Arg148Trp) found in congenital normosomic IHH patient who was also Htz for KISS1R c.1167C>A (p.Cys389*) and SEMA7A variant c.1421G>A (p.Arg474Gln), found in a Kallmann Syndrome patient who was also Htz for splice site affecting KAL1 variant. Sema7A−/− mice have reduced fertility (PMID 24522099)
Created: 14 Oct 2016, 9:59 a.m.


Mode of Inheritance
  • Expert Review Red
  • Literature
  • Congenital hypogonadotropic hypogonadism
Clinvar variants
Variants in SEMA7A
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.

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

Added New Source

Sarah Leigh (Genomics England Curator)

SEMA7A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature

2 Jun 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

SEMA7A was created by sleigh