HPS6

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green HPS6 in Vasculitis


Level 2: Immunological disorders
Version 0.93

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green HPS6 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 6, MIM# 614075
  • MONDO:0013558

Green HPS6 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 6, MIM# 614075
  • MONDO:0013558

Amber HPS6 in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 6 (614075)

Green HPS6 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red HPS6 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.2

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hermansky-Pudlak syndrome 6, MIM# 614075

    Green HPS6 in Mendeliome


    Version 1.3512

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hermansky-Pudlak syndrome 6, MIM# 614075
    • MONDO:0013558

    Green HPS6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hermansky-Pudlak syndrome 6, 614075 (3)

    Red HPS6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Hermansky-Pudlak syndrome 6

    Green HPS6 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hermansky-Pudlak syndrome 6, MIM# 614075
    • MONDO:0013558

    Green HPS6 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hermansky-Pudlak syndrome 6, MIM# 614075

    Red HPS6 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hermansky-Pudlak syndrome 6

    Green HPS6 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hermansky-Pudlak syndrome 6, MIM# 614075
    • MONDO:0013558

    Green HPS6 in Prepair 500+


    Level 2: Screening
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Hermansky-Pudlak syndrome 6, MIM# 614075