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DST

dystonin

HCNC Approved Symbol
DST (HGNC:1090)
Genomic Coordinates
6:56,457,996 - 56,954,830 (6p12.1)
Synonyms
BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2, BPAG1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency
615425AR
Neuropathy, hereditary sensory and autonomic, type VI
614653AR

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the DST gene.

Frequently observed phenotypes

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

Dysarthria
 2 (25.0%)
Gait disturbance
 2 (25.0%)
Muscle weakness
 2 (25.0%)
Clenched hands
 
1 (12.5%)
Developmental delay
 
1 (12.5%)