DOCK11

dedicator of cytokinesis 11
OMIM: 300681, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green DOCK11 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Red DOCK11 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red