DDX58

DExD/H-box helicase 58
OMIM: 609631, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DDX58 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • GDL Glaucoma panel
Phenotypes
  • Singleton-Merten syndrome 2, OMIM:616298
  • Singleton-Merten syndrome 2, MONDO:0014575

Amber DDX58 in COVID-19 research


Level 2: Viral research
Version 1.80

review Unknown
Sources
  • Expert Review Amber
  • Literature

Red DDX58 in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SINGLETON-MERTEN SYNDROME 182250

    Red DDX58 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services

    Green DDX58 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Singleton-Merten syndrome 2, OMIM:616298
    • Singleton-Merten syndrome 2, MONDO:0014575

    Amber DDX58 in Viral resistance


    Level 2: Viral research
    Version 0.63

    review Unknown
    Sources
    • Expert Review Amber
    • Literature