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 1.42

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 1.74

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 1.141

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 1.30

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 1.175

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 3.4
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 4.191
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 3.7
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 1.182

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