PanelApp (test)
  1. Genes and Genomic Entities
  2. CHD1

CHD1

chromodomain helicase DNA binding protein 1
OMIM: 602118, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CHD1 in Mendeliome


Version 1.1902

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 1.33

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 0.6063

    		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 0.252

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