Differences of Sex Development
Gene: PLXNA3
PLXNA3 (plexin A3)
EnsemblGeneIds (GRCh38): ENSG00000130827
EnsemblGeneIds (GRCh37): ENSG00000130827
OMIM: 300022, Gene2Phenotype
PLXNA3 is in 2 panels
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: 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
- PMID: 33495532
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
-
- PMID: 33495532
- 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