DDX53

DEAD-box helicase 53
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red DDX53 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber DDX53 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    Tags
    • deletions
    • promoter