Differences of Sex Development

Gene: PLXNA3

Green List (high evidence)

PLXNA3 (plexin A3)
EnsemblGeneIds (GRCh38): ENSG00000130827
EnsemblGeneIds (GRCh37): ENSG00000130827
OMIM: 300022, Gene2Phenotype
PLXNA3 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Screened 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: Literature
Created: 15 Jun 2021, 3:52 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hypogonadotropic hypogonadism

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism
OMIM
300022
Clinvar variants
Variants in PLXNA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plxna3 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: plxna3 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

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