SH3TC2 - Gene browser

SH3TC2

SH3 domain and tetratricopeptide repeats 2

HCNC Approved Symbol: SH3TC2 (HGNC:29427)
Genomic Coordinates: 5:148,982,150 - 149,063,062 (5q32)
Synonyms: KIAA1985, CMT4C
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

29Patients

In total, 29 patients were diagnosed with a variant in the SH3TC2 gene.

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

029
Patient count

Footdrop: 7 (24.1%)
Patient Count: 7 (24.1%)
% of total patients presenting each phenotype is shown in parentheses.
7 (24.1%)
Peripheral neuropathy: 6 (20.7%)
Patient Count: 6 (20.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (20.7%)
Polyneuropathy: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)
Absent reflexes: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)
Muscle weakness: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)