HPS6

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
OMIM: 607522, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green HPS6 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Hermansky-Pudlak syndrome 6 614075
Green HPS6 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Hermansky-Pudlak syndrome 6 614075
Green HPS6 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH GOSH PID v.8.0 NHS GMS North West GLH Expert Review Green Expert Review Green NHS GMS North West GLH London North GLH GOSH PID v.8.0 Phenotypes Hermansky-Pudlak syndrome 6, 614075
Red HPS6 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Hermansky-Pudlak syndrome 6 614075
Green HPS6 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Hermansky-Pudlak syndrome
Green HPS6 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 6 614075 AR
Green HPS6 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH London North GLH GOSH PID v.8.0 Phenotypes Hermansky-Pudlak syndrome 6, 614075
Green HPS6 in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 614075 Hermansky-Pudlak syndrome 6
Green HPS6 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 6, 614075