CHD3

chromodomain helicase DNA binding protein 3
OMIM: 602120, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red CHD3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

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

Green CHD3 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Snijders Blok-Campeau syndrome, MONDO:0032600

Green CHD3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Snijders Blok-Campeau syndrome, MONDO:0032600

Green CHD3 in Mendeliome


Version 2.588

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Snijders Blok-Campeau syndrome, MONDO:0032600

Green CHD3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.42

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 4 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Snijders Blok-Campeau syndrome, MONDO:0032600

    Green CHD3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Snijders Blok-Campeau syndrome, MONDO:0032600

    Amber CHD3 in Fetal anomalies


    Version 2.81

    1 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 2.2

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Snijders Blok-Campeau syndrome, MONDO:0032600