HPS4

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
OMIM: 606682, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green HPS4 in Ocular and oculo-cutaneous albinism


Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 4
Green HPS4 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 4 614073
Green HPS4 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 4 614073
Green HPS4 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 4, 614073
Green HPS4 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome, 4, 614073
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
  • Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis
Green HPS4 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 HPS4 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
Phenotypes
  • Hermansky-Pudlak syndrome 4
Green HPS4 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 4, 614073
Green HPS4 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
  • 614073 Hermansky-Pudlak syndrome 4
Green HPS4 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 4, 614073
Green HPS4 in Pulmonary fibrosis familial

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.6
Latest signed off version: v1.3 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 4, OMIM:614073