HPS1

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
OMIM: 604982
PanelMode of inheritanceDetails
6 panels
R-numbers: R39
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
203300 Hermansky-Pudlak syndrome 1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HERMANSKY-PUDLAK SYNDROME 203300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1 203300
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome, HERMANSKY-PUDLAK SYNDROME 1, HPS1
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1, oculocutaneous albinism, bleeding, inflammatory bowel disease, pulmonary fibrosis