SQSTM1 - Gene browser

SQSTM1

sequestosome 1

HCNC Approved Symbol: SQSTM1 (HGNC:11280)
Genomic Coordinates: 5:179,806,393 - 179,838,078 (5q35.3)
Synonyms: p62, p60, p62B, A170, PDB3, OSIL
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the SQSTM1 gene.

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

02
Patient count

Bradykinesia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Leukodystrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Memory loss: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Progressive dementia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
White matter abnormalities: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)