RHEB

Ras homolog, mTORC1 binding
OMIM: 601293, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RHEB in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RHEB in Mendeliome


Version 1.1891

review Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, RHEB-related
  • Intellectual disability
  • Macrocephaly
  • Focal cortical dysplasia

Green RHEB in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Other
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, RHEB-related
  • Intellectual disability
  • Macrocephaly
  • Focal cortical dysplasia

Green RHEB in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Macrocephaly
  • Focal cortical dysplasia