BLOC1S5

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber BLOC1S5 in Albinism or congenital nystagmus


Version 1.17
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome, MONDO:0019312
Tags
  • for-review

Amber BLOC1S5 in Bleeding and platelet disorders


Version 1.30
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hermansky–Pudlak syndrome

Red BLOC1S5 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.179
Latest signed off version: v2.5 (13 Feb 2020)

review Unknown
Sources
  • Expert list