MAPT - Gene browser

MAPT

microtubule associated protein tau

HCNC Approved Symbol: MAPT (HGNC:6893)
Genomic Coordinates: 17:45,894,554 - 46,028,334 (17q21.31)
Synonyms: MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103, tau-40, Tau-PHF6, DDPAC, MAPTL
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

2Patients

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

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

02
Patient count

Expressionless face: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Intention tremor: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Muscle weakness: 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%)
Lack of facial expression: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)