1. Genes and Genomic Entities
  2. DDX39B

DDX39B

DExD-box helicase 39B
OMIM: 142560, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber DDX39B in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review