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GENE - TERM ANNOTATION REPORT

RGD ID: 8798820
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Plcb4
Name: phospholipase C beta 4
Acc ID: DOID:0080459
Term: developmental and epileptic encephalopathy 12
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)
Definition Source(s): PMID:20833646 "DO" "DO", PMID:22690784 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Plcb4 ISOPLCB4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:24684524 PMID:28492532
Plcb4 ISOPLCB4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12PMID:28492532 PMID:32733715
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