PLXNB2

Chr 22

plexin B2

Also known as: MM1, Nbla00445, PLEXB2, dJ402G11.3, lncFAL

NCBI Gene: 23654 ENSG00000196576 UniProt: O15031 OMIM: 604293

PLXNB2 encodes a transmembrane receptor that binds semaphorins and angiogenin to regulate axon guidance, neuronal cell migration during brain development, and glutamatergic synapse formation. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and brain malformations, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· G2P