1. Genes and Genomic Entities
  2. DHX9

DHX9

DExH-box helicase 9
OMIM: 603115, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber DHX9 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

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
    • Q3_23_promote_green
    Amber DHX9 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Adult-onset axonal neuropathy
    • Charcot-Marie-Tooth disease, MONDO:0015626
    Tags
    • Q3_23_promote_green