Genomics England
GMS Panels
Panels
Genes and Entities

BLOC1S5

biogenesis of lysosomal organelles complex 1 subunit 5
OMIM: 607289
PanelMode of inheritanceDetails
2 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome, MONDO:0019312
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky–Pudlak syndrome 11, OMIM:619172, Hermansky-Pudlak syndrome 11, MONDO:0030903