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
Green RHOBTB2 in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 64, OMIM:618004
  • developmental and epileptic encephalopathy, 64, MONDO:0033373
Green RHOBTB2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 64, OMIM:618004
Green RHOBTB2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.167
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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