DDX58

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DDX58 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Singleton-Merten syndrome 2, MIM# 616298

Green DDX58 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Singleton-Merten syndrome 2, MIM# 616298
Tags
  • new gene name

Green DDX58 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.3

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lupus Nephritis, MONDO:0005556, DDX58-related