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BLOC1S6

Synonyms
BLOS6, HPS9, PA, PALLID, PLDN
External resources
Summary
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.

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
15
Likely pathogenic
0
VUS
9,874
Likely benign
463
Benign
1

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on BLOC1S6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
71.4%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of limbs
28.6%
Growth abnormality
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of the digestive system
21.4%
Abnormality of the ear
21.4%
Abnormality of the eye
21.4%
Abnormality of the genitourinary system
21.4%
Abnormality of the integument
21.4%
Abnormality of the endocrine system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the respiratory system
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the breast
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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