The PLCB1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462338).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the PLCB1 gene are a rare cause of clinical cases of early infantile epileptic encephalopathy (EIEE).
G-protein coupled receptors are cell-surface proteins that detect a number of biological ligands, activating intracellular signaling cascades. The PLCB1 gene encodes a phospholipase C beta enzyme that hydrolyzes modified lipids at the cell membrane to transduce extracellular signals received by G-protein coupled receptors. PLCB1 protein is also present in the nucleus and is involved in the control of the cell cycle. PLCB1 is ubiquitously expressed with the highest levels in some areas of central nervous system such as the amygdala, caudate nucleus, and hippocampus. (PMID: 18593525).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|