Genomics England
GMS Panels
Panels
Genes and Entities

HPS6

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
OMIM: 607522
PanelMode of inheritanceDetails
3 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 6 614075 AR
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614075 Hermansky-Pudlak syndrome 6
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 6, 614075