PAK1

p21 (RAC1) activated kinase 1
OMIM: 602590, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PAK1 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 with macrocephaly, seizures, and speech delay (MIM#618158)

Green PAK1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay
  • OMIM #618158

Green PAK1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)

    Green PAK1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)

    Green PAK1 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
    • Literature
    Phenotypes
    • Intellectual developmental disorder with macrocephaly, seizures, and speech delay
    • OMIM #618158