RHOBTB2

Rho related BTB domain containing 2
OMIM: 607352, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RHOBTB2 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
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 64 618004
  • Alternating hemiplegia

Green RHOBTB2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 64, MIM#618004

Green RHOBTB2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

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
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64, MIM#618004

    Green RHOBTB2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64, MIM#618004

    Green RHOBTB2 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64, MIM# 618004
    • Paroxysmal movement disorder

    Green RHOBTB2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64, MIM# 618004
    • Dystonia, hypertonia, movement disorder
    • truncal hypotonia
    • hemiparesis
    • developmental and epileptic encephalopathy