BLOC1S3

biogenesis of lysosomal organelles complex 1 subunit 3
OMIM: 609762, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red BLOC1S3 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hermansky-Pudlak syndrome 8, 614077
Green BLOC1S3 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hermansky-Pudlak syndrome
Green BLOC1S3 in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Green BLOC1S3 in Bleeding and platelet disorders


Version 3.10
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
  • Hermansky-Pudlak syndrome 8, 614077
Green BLOC1S3 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 8, 614077