Early-onset Dementia
Gene: MAPT

MAPT (microtubule associated protein tau)
EnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 20838030;
- review of >20 probands with PSP/PSP-like syndrome

RED for AR inheritance:
PMID: 11220749;
- Spanish kindred in which two brothers born from a third-degree consanguineous marriage were both affected with atypical progressive supranuclear palsy.
- A homozygous in-frame del was identified in one of the affected siblings
- Among the heterozygous carriers, two members with probable Parkinson's disease were identified, but none of heterozygotes developed atypical parkinsonism.
Created: 7 Aug 2020, 6:58 a.m. | Last Modified: 7 Aug 2020, 6:58 a.m.

Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Supranuclear palsy, progressive (MIM# 601104) AD; Supranuclear palsy, progressive atypical (MIM# 260540) AR

Publications

Created: 7 Aug 2020, 6:58 a.m.
Last Modified: 7 Aug 2020, 6:58 a.m.
Panel version: 0.53

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Supranuclear palsy, progressive (MIM# 601104) AD
Supranuclear palsy, progressive atypical (MIM# 260540) AR

OMIM

157140

Clinvar variants

Variants in MAPT

Penetrance

None

Publications

Panels with this gene