PanelApp (staging)
  1. Genes and Genomic Entities
  2. CHD8

CHD8

chromodomain helicase DNA binding protein 8
OMIM: 610528, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CHD8 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green CHD8 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with autism and macrocephaly #615032

Green CHD8 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green CHD8 in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism, susceptibility to, 18} 615032
  • Neurodevelopmental disorder, MONDO:0700092, CHD8-associated

Green CHD8 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism, susceptibility to, 18} 615032
  • Neurodevelopmental disorder, MONDO:0700092, CHD8-associated

Green CHD8 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • {Autism, susceptibility to, 18} 615032
  • Neurodevelopmental disorder, MONDO:0700092, CHD8-associated

Amber CHD8 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 0.272

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, CHD8-related, MIM#615032
    • Dystonia

    Amber CHD8 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • {Autism, susceptibility to, 18} 615032
    • CHD8-related neurodevelopmental syndrome