HPS6

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green HPS6 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.39

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 1.73

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 1.130

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 1.29

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 1.172

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 1.23
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 6 614075 AR

Green HPS6 in Primary immunodeficiency


Version 2.572
Latest signed off version: v2.1 (24 Feb 2020)

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 1.43
Latest signed off version: v1.2 (3 Mar 2020)

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 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 6, 614075