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BLOC1S3

Synonyms
BLOS3, HPS8, RP
External resources
Summary
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
594
Likely benign
167
Benign
457

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BLOC1S3 gene.

Phenotype class
Patients in 3billion (%)

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