Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: DOCK8

Green List (high evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 14 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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.

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DOCK8 were set to 26659092; 19776401; 26235511

6 Sep 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DOCK8 were set to 26659092; 19776401

5 Sep 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DOCK8 were set to 26659092

5 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

DOCK8 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive 243700

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DOCK8 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DOCK8 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list