CHD3

chromodomain helicase DNA binding protein 3
OMIM: 602120, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red CHD3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Snijders Blok-Campeau syndrome, MIM#618205

Green CHD3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

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

Green CHD3 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Snijders Blok-Campeau syndrome (618205)

Green CHD3 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 Green
    • Literature
    Phenotypes
    • Snijders Blok-Campeau syndrome MIM#618205

    Green CHD3 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
    • Expert list
    Phenotypes
    • Snijders Blok-Campeau syndrome, MIM#618205

    Amber CHD3 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Snijders Blok-Campeau syndrome, MIM#618205

    Green CHD3 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
    • Snijders Blok-Campeau syndrome MIM#618205