TAOK1

TAO kinase 1
OMIM: 610266, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TAOK1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575
  • Intellectual disability
  • macrocephaly

Green TAOK1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575
  • TAOK1-related neurodevelopmental disorder

Red TAOK1 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, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575

    Green TAOK1 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
    • Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575
    • Intellectual disability
    • hypotonia
    • macrocephaly

    Green TAOK1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575