KAT6A

lysine acetyltransferase 6A
OMIM: 601408, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green KAT6A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KAT6A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome MIM#616268

Green KAT6A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KAT6A in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome, MIM#616268

Green KAT6A in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arboleda-Tham syndrome MIM#616268

Green KAT6A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arboleda-Tham syndrome MIM#616268

    Green KAT6A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • syndromic intellectual disability MONDO:0000508

    Green KAT6A in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
    • MRD32

    Green KAT6A in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Arboleda-Tham syndrome MIM#616268

    Green KAT6A in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Arboleda-Tham syndrome, MIM# 616268