1. Genes and Genomic Entities
  2. DHX16

DHX16

DEAH-box helicase 16
OMIM: 603405, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber DHX16 in Congenital myopathy


Level 2: Neurology
Version 7.61
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733
    Red DHX16 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Intellectual Disability, Central Nervous System anomalies and Seizures
    Amber DHX16 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.8
    Latest signed off version: v9.0 (6 May 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 Amber
    • Literature
    Phenotypes
    • Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733
    Tags
    • watchlist