3billion
back to listBack to List

HSPB1

heat shock protein family B (small) member 1

HCNC Approved Symbol
HSPB1 (HGNC:5246)
Genomic Coordinates
7:76,302,673 - 76,304,292 (7q11.23)
Synonyms
HSP27, HSP28, Hs.76067, Hsp25, CMT2F
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the HSPB1 gene.

Frequently observed phenotypes

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

Axonal neuropathy
 2 (22.2%)
Peripheral axonal neuropathy
 2 (22.2%)
Gait disturbance
 2 (22.2%)
Muscle weakness
 2 (22.2%)
Motor polyneuropathy
 2 (22.2%)
HSPB1 - Gene browser | 3billion