SACS - Gene browser

SACS

sacsin molecular chaperone

HCNC Approved Symbol: SACS (HGNC:10519)
Genomic Coordinates: 13:23,328,830 - 23,433,702 (13q12.12)
Synonyms: ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

31Patients

In total, 31 patients were diagnosed with a variant in the SACS gene.

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

031
Patient count

Ataxia: 7 (22.6%)
Patient Count: 7 (22.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (22.6%)
Neuropathy: 4 (12.9%)
Patient Count: 4 (12.9%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.9%)
Pes cavus: 4 (12.9%)
Patient Count: 4 (12.9%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.9%)
Intellectual disability: 3 (9.7%)
Patient Count: 3 (9.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (9.7%)
Cerebellar atrophy: 3 (9.7%)
Patient Count: 3 (9.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (9.7%)