DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A
OMIM: 600855, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DYRK1A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 7, MIM# 614104
  • MONDO:0013578
Tags
  • SV/CNV

Green DYRK1A in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mental retardation, autosomal dominant 7 (MIM#614104)

    Red DYRK1A in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • congenital cataracts

    Green DYRK1A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder MIM#614104

    Green DYRK1A in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal dominant 7 (MIM#614104)
    Tags
    • SV/CNV

    Green DYRK1A 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 7, MIM# 614104
    • MONDO:0013578
    Tags
    • SV/CNV

    Green DYRK1A 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Mental retardation, autosomal dominant 7, MIM# 614104
    • MONDO:0013578
    Tags
    • SV/CNV

    Green DYRK1A 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 7 (MIM#614104)

    Green DYRK1A in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Mental retardation, autosomal dominant 7, MIM# 614104
    Tags
    • SV/CNV