Genomics England
GMS Panels
Panels
Genes and Entities

MAPT

microtubule associated protein tau
OMIM: 157140
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Supranuclear palsy, progressive, OMIM:601104, Supranuclear palsy, progressive atypical, OMIM:260540, {Parkinson disease, susceptibility to}, OMIM:168600, Dementia, frontotemporal, with or without parkinsonism, OMIM:600274, Pick disease, OMIM:172700
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dementia, frontotemporal, with or without parkinsonism, OMIM:600274, Tauopathy and r, Supranuclear palsy, progressive, 601104, clinical presentation suggestive of cortico-basal/PSP syndrome, PARKINSON-DEMENTIA SYNDROME, {Parkinson disease, susceptibility to}, 168600, Pick disease, 172700, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Supranuclear palsy, progressive atypical, 260540