CHD1

chromodomain helicase DNA binding protein 1
OMIM: 602118, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CHD1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green CHD1 in DDG2P


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHD1-related neurodevelopment disorder
    Red CHD1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate
    Amber CHD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Pilarowski-Bjornsson syndrome, MIM#617682