CHD4

chromodomain helicase DNA binding protein 4
OMIM: 603277, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red CHD4 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sifrim-Hitz-Weiss syndrome, MIM#617159

Green CHD4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sifrim-Hitz-Weiss syndrome (MIM#617159)

Green CHD4 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sifrim-Hitz-Weiss syndrome, MIM #617159

Green CHD4 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sifrim-Hitz-Weiss syndrome (MIM#617159)

Green CHD4 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sifrim-Hitz-Weiss syndrome, MIM 617159
  • Childhood idiopathic epilepsy and sinus arrhythmia

Amber CHD4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Sifrim-Hitz-Weiss syndrome (MIM#617159)

Green CHD4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome, MIM# 617159
    • Childhood idiopathic epilepsy and sinus arrhythmia

    Green CHD4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CHD4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome, MIM 617159

    Amber CHD4 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Moya Moya
    • Sifrim-Hitz-Weiss syndrome, MIM# 617159

    Amber CHD4 in Clefting disorders

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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome, MIM 617159

    Green CHD4 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome MONDO:0014946
    • Sifrim-Hitz-Weiss syndrome OMIM:617159