Gastrointestinal epithelial barrier disorders

Gene: DOCK8

Green List (high evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 13 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review and previous curation have highlighted that variants in this gene appear to be linked to early onset inflammatory bowel disease and therefore this gene will be promoted to green
Created: 26 Jul 2018, 11:43 a.m.

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.

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: dock8 has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 1

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for gene: DOCK8 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

DOCK8 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

DOCK8 was created by Olivia Niblock