Genomics England

HPS1

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome 1
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 203300 Hermansky-Pudlak syndrome 1
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HERMANSKY-PUDLAK SYNDROME 203300
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome 1 203300
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome, HERMANSKY-PUDLAK SYNDROME 1, HPS1
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 1, oculocutaneous albinism, bleeding, inflammatory bowel disease, pulmonary fibrosis
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome 1, OMIM:203300