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Intellectual disability

Gene: PLXNA1

No list

PLXNA1 (plexin A1)
EnsemblGeneIds (GRCh38): ENSG00000114554
EnsemblGeneIds (GRCh37): ENSG00000114554
OMIM: 601055, Gene2Phenotype
PLXNA1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.
Sources: Literature
Created: 11 Oct 2021, 9:55 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cerebral and eye anomalies

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neurodevelopmental disorder with cerebral and eye anomalies
OMIM
601055
Clinvar variants
Variants in PLXNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PLXNA1 was added gene: PLXNA1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLXNA1 were set to 34054129 Phenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies Review for gene: PLXNA1 was set to GREEN