PLCB1

Chr 20

phospholipase C beta 1

Also known as: DEE12, EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A

NCBI Gene: 23236 ENSG00000182621 UniProt: Q9NQ66

The protein catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate, mediating intracellular signal transduction in response to extracellular signals. Biallelic mutations cause developmental and epileptic encephalopathy 12 through autosomal recessive inheritance. The high pLI score (0.98) and low LOEUF score (0.30) indicate this gene is highly intolerant to loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 12

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ARDefinitivesufficient evidence for diagnostic panels

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

—

P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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