BSCL2 - Gene browser

BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

HCNC Approved Symbol: BSCL2 (HGNC:15832)
Genomic Coordinates: 11:62,690,262 - 62,709,537 (11q12.3)
Synonyms: seipin, GNG3LG, SPG17
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the BSCL2 gene.

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

014
Patient count

Polyneuropathy: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Dystonia: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Small thenar eminence: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Gait disturbance: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Diurnal: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)