STRs in panel
Prev Next
Regions in panel
Prev Next

Severe multi-system atopic disease with high IgE

Gene: DOCK8

Green List (high evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels

1 review

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Viral infections; lymphopenia; raised IgE; allergies; low IgM

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700
  • Hyper IgE syndromes
OMIM
611432
Clinvar variants
Variants in DOCK8
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

DOCK8 was added to Severe multi-system atopic disease with high IgEpanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

DOCK8 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DOCK8 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Radboud University Medical Center, Nijmegen