TRIO

trio Rho guanine nucleotide exchange factor
OMIM: 601893, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TRIO in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
  • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825

Green TRIO in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 44, MIM# 617061

Green TRIO in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 44, MIM# 617061

Green TRIO in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
    • Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825

    Red TRIO in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal dominant 44, MIM# 617061

    Green TRIO in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, autosomal dominant 44, MIM# 617061

    Green TRIO in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, autosomal dominant 44, MIM# 617061