CHD1

chromodomain helicase DNA binding protein 1
OMIM: 602118, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber CHD1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability
  • macrocephaly

Green CHD1 in Mendeliome


Version 1.2302

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pilarowski-Bjornsson syndrome, MIM#617682

Green CHD1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pilarowski-Bjornsson syndrome, MIM#617682

    Green CHD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pilarowski-Bjornsson syndrome, MIM#617682

    Red CHD1 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Pilarowski-Bjornsson syndrome MIM#617682

    Red CHD1 in Clefting disorders

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

    review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate