Genomics England
GMS Panels
Panels
Genes and Entities

DDX39B

DExD-box helicase 39B
OMIM: 142560
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071