DOCK11

dedicator of cytokinesis 11
OMIM: 300681, Gene2Phenotype

2 panels

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Tags
  • Q3_23_promote_green
Red DOCK11 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

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