Genomics England
GMS Panels
Panels
Genes and Entities

BLOC1S5

biogenesis of lysosomal organelles complex 1 subunit 5
OMIM: 607289
PanelMode of inheritanceDetails
1 panel
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome, MONDO:0019312