1. Genes and Genomic Entities
  2. DDX6

DDX6

DEAD-box helicase 6
OMIM: 600326, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red DDX6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653
Green DDX6 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY
    Green DDX6 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Generalized hypotonia
    • Global developmental delay
    • Intellectual disability
    • Unsteady gait
    • Abnormality of the cardiovascular system
    • Abnormality of the genitourinary system
    • Abnormality of limbs