1. Genes and Genomic Entities
  2. PLCB1

PLCB1

phospholipase C beta 1
OMIM: 607120, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PLCB1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber PLCB1 in Fetal anomalies


Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Green PLCB1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722
    Green PLCB1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
    • Epileptic encephalopathy, early infantile, 12
    Green PLCB1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Epileptic encephalopathy, early infantile, 12, 613722
    • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
    Green PLCB1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 12, 613722