1. Genes and Genomic Entities
  2. CHD4

CHD4

chromodomain helicase DNA binding protein 4
OMIM: 603277, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber CHD4 in Cerebral vascular malformations


Level 2: Neurology
Version 5.3
Latest signed off version: v5.2 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moyamoya disease MONDO:0016820
  • Sifrim-Hitz-Weiss syndrome OMIM:617159
  • Sifrim-Hitz-Weiss syndrome MONDO:0014946
Green CHD4 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
  • Sifrim-Hitz-Weiss syndrome 617159
Green CHD4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Sifrim-Hitz-Weiss syndrome OMIM:617159
  • Sifrim-Hitz-Weiss syndrome MONDO:0014946
Green CHD4 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
    Amber CHD4 in Clefting


    Level 2: Musculoskeletal
    Version 7.10
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome, OMIM:617159
    Green CHD4 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome, OMIM:617159
    Green CHD4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Sifrim-Hitz-Weiss syndrome OMIM:617159
    • Sifrim-Hitz-Weiss syndrome MONDO:0014946