DDX39B

DExD-box helicase 39B
OMIM: 142560, Gene2Phenotype

1 panel

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


Level 2: Developmental disorders
Version 11.9
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked