RBL2

RB transcriptional corepressor like 2
OMIM: 180203, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red RBL2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews 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 2.0

2 reviews 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 2.0

1 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 2.0

3 reviews 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 2.0

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