PRRT2

proline rich transmembrane protein 2
OMIM: 614386, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PRRT2 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.57

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
  • Episodic kinesigenic dyskinesia 1, 128200
  • Seizures, benign familial infantile, 2, 605751

Green PRRT2 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
    • Episodic kinesigenic dyskinesia 1 128200
    • Seizures, benign familial infantile, 2 605751

    Green PRRT2 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
    • Episodic kinesigenic dyskinesia 1 128200
    • Seizures, benign familial infantile, 2 605751

    Green PRRT2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
    • Episodic kinesigenic dyskinesia 1 128200
    • Seizures, benign familial infantile, 2 605751

    Green PRRT2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber PRRT2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066
    • Episodic kinesigenic dyskinesia 1, MIM# 128200
    • Seizures, benign familial infantile, 2, MIM# 605751
    • intellectual disability, autosomal recessive

    Green PRRT2 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
    • Episodic kinesigenic dyskinesia 1 128200
    • Seizures, benign familial infantile, 2 605751

    Green PRRT2 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Familial infantile convulsions with paroxysmal dyskinesia 1, 602066
    • CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
    • episodic kinesigenic dyskinesia
    • dystonia and occasionally hemiplegic migraine and epilepsy
    • episodic kinesigenic dyskinesia, 128200
    • EPISODIC KINESIGENIC DYSKINESIA 1
    • SEIZURES, BENIGN FAMILIAL INFANTILE, 2

    Green PRRT2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic kinesigenic dyskinesia 1 MIM#128200
    • Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066
    • Seizures, benign familial infantile, 2 MIM#605751

    Green PRRT2 in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Episodic kinesigenic dyskinesia 1, MIM# 128200
    • MONDO:0007494

    Red PRRT2 in Fetal anomalies


    Version 1.314

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066
    • Episodic kinesigenic dyskinesia 1, MIM# 128200
    • Seizures, benign familial infantile, 2, MIM# 605751
    • intellectual disability, autosomal recessive