PLCB1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PLCB1 (HGNC:15917) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phospholipase C beta 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0581, PLC-I, PLC154
%HI
5.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.36(Read more about gnomAD LOEUF score)
Cytoband
20p12.3
Genomic Coordinates
GRCh37/hg19: chr20:8112913-8865547 NCBI Ensembl UCSC
GRCh38/hg38: chr20:8132266-8884900 NCBI Ensembl UCSC
MANE Select Transcript
NM_015192.4 ENST00000338037.11 (Read more about MANE Select)
Function
Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5- bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein- coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier. {ECO:0000250|UniProtKB:Q9Z1B3, ECO:0000269|PubMed:9188725}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15317
ClinGen Curation ID:
CCID:007680
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • developmental and epileptic encephalopathy, 12 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)