DOCK8

dedicator of cytokinesis 8
OMIM: 611432, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red DOCK8 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DOCK8 in Mendeliome


Version 2.0

1 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 2.0

1 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 2.0

1 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 2.0

2 reviews 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 1.0

0 reviews 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 1.0

0 reviews 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 3.0

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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