PLXNA1 Chromosome 3
Plexin A1
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What This Gene Does
Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; nervous system development; and semaphorin-plexin signaling pathway. Predicted to act upstream of or within dichotomous subdivision of terminal units involved in salivary gland branching; neuron projection extension; and regulation of smooth muscle cell migration. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Plexins|IPT domain containing"
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000114554
Associated Conditions (4)
PLXNA1-related disorder
Neurodevelopmental disorder
Dworschak-Punetha neurodevelopmental syndrome
Neurodevelopmental disorder with variable cerebral and eye anomalies
Key Variants
RS138276286
Conflicting classifications of pathogenicity
PLXNA1-related disorder, PLXNA1-related disorder
Health Risk
RS199523740
Conflicting classifications of pathogenicity
PLXNA1-related disorder, PLXNA1-related disorder
Health Risk
RS200374384
Conflicting classifications of pathogenicity
PLXNA1-related disorder, PLXNA1-related disorder
Health Risk
RS2079185551
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, PLXNA1-related disorder, Neurodevelopmental disorder
Health Risk
RS370434411
Conflicting classifications of pathogenicity
PLXNA1-related disorder, PLXNA1-related disorder
Health Risk
RS375833812
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, PLXNA1-related disorder, Neurodevelopmental disorder
Health Risk
RS377693045
Conflicting classifications of pathogenicity
Health Risk
RS557203949
Conflicting classifications of pathogenicity
Dworschak-Punetha neurodevelopmental syndrome, Dworschak-Punetha neurodevelopmental syndrome
Health Risk
RS747148568
Conflicting classifications of pathogenicity
Health Risk
RS772360004
Conflicting classifications of pathogenicity
Dworschak-Punetha neurodevelopmental syndrome, PLXNA1-related disorder, Dworschak-Punetha neurodevelopmental syndrome
Health Risk
RS1394805238
Likely pathogenic
Health Risk
RS2079215968
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138276286 | Health Risk | Conflicting classifications of pathogenicity | PLXNA1-related disorder, PLXNA1-related disorder |
| RS199523740 | Health Risk | Conflicting classifications of pathogenicity | PLXNA1-related disorder, PLXNA1-related disorder |
| RS200374384 | Health Risk | Conflicting classifications of pathogenicity | PLXNA1-related disorder, PLXNA1-related disorder |
| RS2079185551 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, PLXNA1-related disorder, Neurodevelopmental disorder |
| RS370434411 | Health Risk | Conflicting classifications of pathogenicity | PLXNA1-related disorder, PLXNA1-related disorder |
| RS375833812 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, PLXNA1-related disorder, Neurodevelopmental disorder |
| RS377693045 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS557203949 | Health Risk | Conflicting classifications of pathogenicity | Dworschak-Punetha neurodevelopmental syndrome, Dworschak-Punetha neurodevelopmental syndrome |
| RS747148568 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772360004 | Health Risk | Conflicting classifications of pathogenicity | Dworschak-Punetha neurodevelopmental syndrome, PLXNA1-related disorder, Dworschak-Punetha neurodevelopmental syndrome |
| RS1394805238 | Health Risk | Likely pathogenic | — |
| RS2079215968 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2107620082 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome, Neurodevelopmental disorder |
| RS2472529640 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with variable cerebral and eye anomalies, Neurodevelopmental disorder with variable cerebral and eye anomalies |
| RS2472529689 | Health Risk | Likely pathogenic | Dworschak-Punetha neurodevelopmental syndrome, Dworschak-Punetha neurodevelopmental syndrome |
| RS2107631669 | Health Risk | Pathogenic | — |
| RS766352439 | Health Risk | Pathogenic | — |
| RS1204647586 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome, PLXNA1-related disorder |
| RS2079056783 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome, Neurodevelopmental disorder |
| RS2079109807 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome, Neurodevelopmental disorder |