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HPS4

Synonyms
BLOC3S2, LE
External resources
Summary
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
4,227
Likely benign
2,931
Benign
511

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on HPS4 gene are displayed below. The following symptoms were found in patients with a variant in HPS4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the nervous system
42.9%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the integument
14.3%
Constitutional symptom
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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