PanelApp
  1. Genes and Genomic Entities
  2. RHEB

RHEB

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber RHEB in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review Other
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Focal cortical dysplasia, MONDO:0019009, RHEB-related
    Tags
    • somatic

    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 2.76

    		1 review Other
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, RHEB-related
    • Intellectual disability
    • Macrocephaly
    • Focal cortical dysplasia, MONDO:0019009, RHEB-related
    Tags
    • somatic

    Green RHEB in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  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 2.11

    		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 2.2

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