BLOC1S5

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green BLOC1S5 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky–Pudlak syndrome type 11, 619172

Green BLOC1S5 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky–Pudlak syndrome type 11, MIM#619172

Green BLOC1S5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky–Pudlak syndrome 11, MIM#619172

Green BLOC1S5 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome, MONDO:0019312

Green BLOC1S5 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky Pudlak syndrome type 11, MIM#619172