BLOC1S5

biogenesis of lysosomal organelles complex 1 subunit 5
OMIM: 607289, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green BLOC1S5 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, MONDO:0019312
Amber BLOC1S5 in Bleeding and platelet disorders


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hermansky–Pudlak syndrome 11, OMIM:619172
  • Hermansky-Pudlak syndrome 11, MONDO:0030903
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review
Red BLOC1S5 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Unknown
    Sources
    • Expert list