Gastrointestinal epithelial barrier disorders
Gene: HPS6

HPS6 (HPS6, biogenesis of lysosomal organelles complex 2 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 8 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment 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.

Created: 26 Jul 2018, 11:35 a.m.

Panel version: 1.39

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

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 reported
Created: 5 Sep 2016, 6:51 a.m.

Created: 2 Sep 2016, 3:51 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.49

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Early Onset Inflammatory Bowel Disease
Hermansky-Pudlak syndrome 6 614075

OMIM

607522

Clinvar variants

Variants in HPS6

Penetrance

None

Panels with this gene