Hypogonadotropic hypogonadism
Gene: SEMA7AEnsemblGeneIds (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.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Congenital hypogonadotropic hypogonadism
- Tags
- OMIM
- 607961
- Clinvar variants
- Variants in SEMA7A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)SEMA7A was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)SEMA7A was created by sleigh