PanelApp
  1. Genes and Genomic Entities
  2. PLCB1

PLCB1

phospholipase C beta 1
OMIM: 607120, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PLCB1 in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 12 (MIM#613722)
Tags
  • SV/CNV

Green PLCB1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.263

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epileptic encephalopathy, early infantile, 12 (MIM#613722)
    Tags
    • SV/CNV

    Green PLCB1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 12 (MIM#613722)
    Tags
    • SV/CNV

    Red PLCB1 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Epileptic encephalopathy, early infantile, 12 (MIM#613722)