Genomics England
GMS Panels
Panels
Genes and Entities

BLOC1S3

biogenesis of lysosomal organelles complex 1 subunit 3
OMIM: 609762
PanelMode of inheritanceDetails
2 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 8, 614077