Genomics England
GMS Panels
Panels
Genes and Entities

DHX9

DExH-box helicase 9
OMIM: 603115
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 75, OMIM:620988