HSPG2 - Gene browser

HSPG2

heparan sulfate proteoglycan 2

HCNC Approved Symbol: HSPG2 (HGNC:5273)
Genomic Coordinates: 1:21,822,244 - 21,937,310 (1p36.12)
Synonyms: perlecan, PRCAN, SJS1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the HSPG2 gene.

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

09
Patient count

Myotonia: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Abnormal facial shape: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Abnormal vertebral column: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Abnormality of the cervical spine: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Abnormality of the vertebral column: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)