HPS6 - Gene browser

HPS6

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

HCNC Approved Symbol: HPS6 (HGNC:18817)
Genomic Coordinates: 10:102,065,349 - 102,068,036 (10q24.32)
Synonyms: FLJ22501, BLOC2S3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the HPS6 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

04
Patient count

Albinism: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Nystagmus: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Fair hair: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Foveal hypoplasia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Partial albinism: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)