PLCB1 Chromosome 20
Phospholipase C beta 1
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What This Gene Does
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]
Gene Info
Gene Group
"Phospholipases|C2 domain containing phospholipases"
Locus Type
gene with protein product
Location
20p12.3
Ensembl
ENSG00000182621
Associated Conditions (9)
Developmental and epileptic encephalopathy
12
Inborn genetic diseases
PLCB1-related disorder
Malignant tumor of esophagus
See cases
Acute myeloid leukemia
Abnormal brain morphology
Self-limited epilepsy with centrotemporal spikes
Key Variants
RS1183324381
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS138077430
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS139095432
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS141433824
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS141857911
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS142432676
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS143755415
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS145869401
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS147567110
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS148848282
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
RS150219357
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy
Health Risk
RS150241349
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 12, Inborn genetic diseases
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499765 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1235234848 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1568574966 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1568577135 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1989166718 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2123290747 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2123451785 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2514783845 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515182138 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515277441 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515286894 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515326219 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1555790846 | Health Risk | Pathogenic | Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS1568571093 | Health Risk | Pathogenic | — |
| RS1600278094 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS1981959745 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2123399674 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515247150 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515281114 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515299378 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS2515347436 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |
| RS990536521 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 12, Developmental and epileptic encephalopathy |