BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6
OMIM: 604310, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red BLOC1S6 in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GRID V2.0North West GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services, London North GLH
  • Victorian Clinical Genetics Services, London North GLH
  • NHS GMS
  • GRID V2.0
  • GRID V2.0North West GLH
  • Expert Review Red
Phenotypes
  • Immune Dysregulation
  • Hermansky-pudlak syndrome 9, 614171
  • HPS9, palladin deficiency (NK cell defect)

Red BLOC1S6 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 9, 614171

Green BLOC1S6 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 BLOC1S6 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
  • NHS GMS
Phenotypes
  • ?Hermansky-pudlak syndrome 9 614171 AR

Green BLOC1S6 in Primary immunodeficiency


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services, London North GLH
  • NHS GMS
  • GRID V2.0
  • GRID V2.0North West GLH
Phenotypes
  • Hermansky-pudlak syndrome 9, 614171
  • HPS9, palladin deficiency (NK cell defect)
  • Immune Dysregulation

Green BLOC1S6 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
  • 614171 ?Hermansky-pudlak syndrome 9

Amber BLOC1S6 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 9

Amber BLOC1S6 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • HERMANSKY-PUDLAK SYNDROME 9 614171

    Red BLOC1S6 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review Unknown
    Sources
    • Expert list

    Green BLOC1S6 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 9, 614171