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TPP1

tripeptidyl peptidase 1

HCNC Approved Symbol
TPP1 (HGNC:2073)
Genomic Coordinates
11:6,612,768 - 6,619,422 (11p15.4)
Synonyms
LPIC, TPP-1, CLN2, SCAR7
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the TPP1 gene.

Frequently observed phenotypes

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

Cerebellar atrophy
 4 (36.4%)
Cerebral atrophy
 3 (27.3%)
Seizures
 3 (27.3%)
Ataxia
 3 (27.3%)
Epilepsy
 3 (27.3%)
TPP1 - Gene browser | 3billion