RBL2

RB transcriptional corepressor like 2
OMIM: 180203, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red RBL2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe motor and cognitive impairment
  • Intellectual disability
  • Brunet-Wagner neurodevelopmental syndrome MIM#619690

Green RBL2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Brunet-Wagner neurodevelopmental syndrome, MIM# 619690

Amber RBL2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe motor and cognitive impairment
  • Intellectual disability
  • Brunet-Wagner neurodevelopmental syndrome MIM#619690

Amber RBL2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Brunet-Wagner neurodevelopmental syndrome, MIM# 619690

    Green RBL2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Brunet-Wagner neurodevelopmental syndrome MIM#619690