Genomics England
GMS Panels
Panels
Genes and Entities

BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6
OMIM: 604310
PanelMode of inheritanceDetails
4 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hermansky-pudlak syndrome 9 614171 AR
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614171 ?Hermansky-pudlak syndrome 9
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HERMANSKY-PUDLAK SYNDROME 9 614171
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-pudlak syndrome 9, 614171, HPS9, palladin deficiency (NK cell defect), Immune Dysregulation