RHEB

Ras homolog, mTORC1 binding
OMIM: 601293, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RHEB in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, RHEB-related

Green RHEB in Mendeliome


Version 2.0

1 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 Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • 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 2.0

1 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 2.0

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