Differences of Sex Development
Gene: SEMA3FEnsemblGeneIds (GRCh38): ENSG00000001617
EnsemblGeneIds (GRCh37): ENSG00000001617
OMIM: 601124, Gene2Phenotype
SEMA3F is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates.
Sources: LiteratureCreated: 15 Jun 2021, 3:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism
Publications
- PMID: 33495532
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hypogonadotropic hypogonadism
- OMIM
- 601124
- Clinvar variants
- Variants in SEMA3F
- Penetrance
- None
- Publications
-
- PMID: 33495532
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sema3f has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sema3f has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SEMA3F was added gene: SEMA3F was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3F were set to PMID: 33495532 Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism Review for gene: SEMA3F was set to GREEN