PanelApp
  1. Genes and Genomic Entities
  2. DOCK2

DOCK2

dedicator of cytokinesis 2
OMIM: 603122, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DOCK2 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 40 MIM# 616433
  • T/B-cell lymphopaenia
  • early-onset invasive herpes/viral/bacterial Infections
  • function defects in T/B/NK cells
  • immunodeficiency
  • defective IFN-mediated immunity
  • elevated IgM
  • normal IgG/IgA levels

Green DOCK2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 40 MIM# 616433
    • T/B-cell lymphopaenia
    • early-onset invasive herpes/viral/bacterial Infections
    • function defects in T/B/NK cells
    • immunodeficiency
    • defective IFN-mediated immunity
    • elevated IgM
    • normal IgG/IgA levels

    Amber DOCK2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Genetic hemophagocytic lymphohistiocytosis MONDO:0015541

    Green DOCK2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 40, 616433 (3)

    Green DOCK2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 40, 616433 (3)

    Green DOCK2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Immunodeficiency 40 MIM# 616433
    Tags
    • treatable
    • immunological