Differences of Sex Development
Gene: PLXNA3Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants.
In 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3.
Sources: LiteratureCreated: 15 Jun 2021, 3:52 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism
Publications
Gene: plxna3 has been classified as Green List (High Evidence).
Gene: plxna3 has been classified as Green List (High Evidence).
gene: PLXNA3 was added gene: PLXNA3 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLXNA3 were set to PMID: 33495532 Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism