DOCK8

dedicator of cytokinesis 8
OMIM: 611432, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green DOCK8 in Vasculitis


Level 2: Immunological disorders
Version 0.86

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red DOCK8 in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper-IgE recurrent infection syndrome 243700
Tags
  • SV/CNV

Green DOCK8 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.122

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DOCK8 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700
    • Childhood bronchiectasis
    Tags
    • treatable

    Green DOCK8 in Mendeliome


    Version 1.2302

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700
    • T cell Lymphopaenia
    • decraese T/B/NK cells
    • Eosinophilia
    • low IgM
    • elevated IgE
    • recurrent cutaneous/ viral/ bacterial/ fungal/ infections
    • severe atopy/allergic disease
    • autoimmune haemolytic anaemia
    • eczema
    • cancer diathesis
    Tags
    • treatable

    Green DOCK8 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700
    • Childhood bronchiectasis

    Green DOCK8 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.114

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700
    • T cell Lymphopaenia
    • decraese T/B/NK cells
    • Eosinophilia
    • low IgM
    • elevated IgE
    • recurrent cutaneous/ viral/ bacterial/ fungal/ infections
    • severe atopy/allergic disease
    • autoimmune haemolytic anaemia
    • eczema
    • cancer diathesis

    Red DOCK8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • intellectual developmental disorder, autosomal dominant 2, MIM#614113

    Green DOCK8 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)

    Green DOCK8 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyper-IgE syndrome

    Green DOCK8 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM#243700

    Green DOCK8 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BegniNGS
    • BabySeq Category A gene
    Phenotypes
    • Hyper-IgE syndrome, MIM#243700
    Tags
    • treatable
    • immunological