Hypogonadotropic hypogonadism idiopathic

Gene: SEMA3F

No list

SEMA3F (semaphorin 3F)
EnsemblGeneIds (GRCh38): ENSG00000001617
EnsemblGeneIds (GRCh37): ENSG00000001617
OMIM: 601124, Gene2Phenotype
SEMA3F is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 8 Jul 2021, 7:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Hypogonadotropic hypogonadism
OMIM
601124
Clinvar variants
Variants in SEMA3F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SEMA3F was added gene: SEMA3F was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3F were set to 33495532 Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism Review for gene: SEMA3F was set to GREEN