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Early-onset Parkinson disease

Gene: MAPT

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

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

MAPT gene has well-established Parkinsonism manifestations.
Created: 25 Aug 2023, 1:50 a.m. | Last Modified: 25 Aug 2023, 1:50 a.m.
Panel Version: 0.243

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
late-onset Parkinson disease MONDO:0008199

Publications

Created: 25 Aug 2023, 1:50 a.m.
Last Modified: 25 Aug 2023, 1:50 a.m.
Panel version: 0.243

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
  • late-onset Parkinson disease MONDO:0008199
OMIM
157140
Clinvar variants
Variants in MAPT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mapt has been classified as Green List (High Evidence).

20 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MAPT were changed from to late-onset Parkinson disease MONDO:0008199

20 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MAPT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MAPT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MAPT were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAPT was added gene: MAPT was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: MAPT was set to Unknown