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  2. Early onset dementia (encompassing fronto-temporal dementia and prion disease)
  3. MAPT
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Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: MAPT

Green List (high evidence)
MAPT (microtubule associated protein tau)
EnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 5 panels

3 reviews

simon mead (UCL)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

PMID: 28334843 - new publication providing further evidence. Autophagy-upregulating therapies may be a strategy for the treatment for tauopathies.
Created: 14 Aug 2017, 3:19 p.m.

Publications

Created: 14 Aug 2017, 3:17 p.m.

Panel version: 1.10

Caroline Wright (Genomics England Curator)

Comment on mode of inheritance: OMIM
Created: 10 May 2016, 12:27 p.m.
Comment on list classification: Multiple cases in ClinVar and OMIM associated with Frontotemporal dementia
Created: 10 May 2016, 12:27 p.m.
Created: 10 May 2016, 12:27 p.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dementia, frontotemporal, with or without parkinsonism, 600274
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Tags
treatable
OMIM
157140
Clinvar variants
Variants in MAPT
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPT was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPT was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPT was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen