Gastrointestinal epithelial barrier disorders
Gene: HPS6Comment on list classification: Expert review and previous curation have indicated that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.Created: 26 Jul 2018, 11:35 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. Eight variants reportedCreated: 5 Sep 2016, 6:51 a.m.
Gene: hps6 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 HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene HPS6 were set to Early Onset Inflammatory Bowel Disease, Hermansky-Pudlak syndrome 6 614075
HPS6 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
HPS6 was created by Olivia Niblock