PanelApp (stage)
  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

Green DHX16 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733

Green DHX16 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733
    • MONDO:0032890)

    Green DHX16 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733