Gastrointestinal epithelial barrier disordersGene: DOCK8
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.
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.
Gene: dock8 has been classified as Green List (High Evidence).
Mode of inheritance for gene: DOCK8 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
DOCK8 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
DOCK8 was created by Olivia Niblock