Bleeding and Platelet Disorders
Gene: HPS3

HPS3 (HPS3, biogenesis of lysosomal organelles complex 2 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000163755
EnsemblGeneIds (GRCh37): ENSG00000163755
OMIM: 606118, Gene2Phenotype
HPS3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.

Well established gene-disease association.
Created: 3 Jun 2021, 9:43 a.m. | Last Modified: 3 Jun 2021, 9:43 a.m.

Panel Version: 0.275

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555

Publications

Created: 3 Jun 2021, 9:42 a.m.
Last Modified: 3 Jun 2021, 9:42 a.m.
Panel version: 0.275

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hermansky-Pudlak syndrome 3, MIM# 614072
MONDO:0013555

OMIM

606118

Clinvar variants

Variants in HPS3

Penetrance

None

Publications

Panels with this gene