HPS5

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
OMIM: 607521, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green HPS5 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 5
Red HPS5 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 5 614074
Green HPS5 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 HPS5 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 5
Green HPS5 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
  • 614074 Hermansky-Pudlak syndrome 5
Green HPS5 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 5, 614074