1. Genes and Genomic Entities
  2. RHOBTB2

RHOBTB2

Rho related BTB domain containing 2
OMIM: 607352, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber RHOBTB2 in Paroxysmal central nervous system disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 64, OMIM:618004
  • developmental and epileptic encephalopathy, 64, MONDO:0033373
Tags
  • Q3_23_promote_green
  • Q3_23_MOI
Green RHOBTB2 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Developmental and Epileptic Encephalopathy
    Green RHOBTB2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64 618004
    Green RHOBTB2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64, 618004
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Postnatal microcephaly
    Green RHOBTB2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 64, 618004