DDX6

DEAD-box helicase 6
OMIM: 600326, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DDX6 in Fetal anomalies


Version 1.732
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY

Amber DDX6 in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • INTELLECTUAL DISABILITY

    Green DDX6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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