Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: DOCK8

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

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: 0.122

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least six variants reported in four homozygous cases and one compound heterozygote.

Created: 6 Sep 2016, 7:01 a.m.

Created: 6 Sep 2016, 7:01 a.m.

Panel version: 0.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert list

Phenotypes

Hyper-IgE recurrent infection syndrome, autosomal recessive 243700

OMIM

611432

Clinvar variants

Variants in DOCK8

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

6 Sep 2016, Gel status: 4