Gastrointestinal epithelial barrier disorders
Gene: HPS4Comment on list classification: Nine variants reported for this gene linked to gastrointestinal phenotypes and expert review green. Phenotypes include Granulomatous colitis as a part of Hermansky-Pudlak syndrome 4. Promoting gene to green.Created: 26 Jul 2018, 10:26 a.m.
Comment on mode of inheritance: Changed from unknown.Created: 5 Apr 2017, 9 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Nine variants reportedCreated: 5 Sep 2016, 6:50 a.m.
Gene: hps4 has been classified as Green List (High Evidence).
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
Model of inheritance for gene HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene HPS4 were set to Early Onset Inflammatory Bowel Disease, Hermansky-Pudlak syndrome 4 614073
HPS4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
HPS4 was created by Olivia Niblock