Genomics England
GMS Panels
Panels
Genes and Entities

DHX9

DExH-box helicase 9
OMIM: 603115
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult-onset axonal neuropathy, Charcot-Marie-Tooth disease, MONDO:0015626
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071