DDX58

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green DDX58 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

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
Tags
  • new-gene-name
Amber DDX58 in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
  • new-gene-name
Red DDX58 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

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
    Tags
    • new-gene-name
    Red DDX58 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    Tags
    • new-gene-name
    Green DDX58 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    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
    Tags
    • new-gene-name