CDK13

cyclin dependent kinase 13
OMIM: 603309, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CDK13 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

Green CDK13 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360

Green CDK13 in Kabuki syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360

Green CDK13 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360

Amber CDK13 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360)

Green CDK13 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
    • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360

    Green CDK13 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
    • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

    Green CDK13 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

    Green CDK13 in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360