Early onset and familial Parkinson's Disease
Gene: MAPTEnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 5 panels
1 review
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, 3:26 p.m.
Comment on list classification: Is on the Dementia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, and consideration of testing for this gene is suggested in the case of familial or unusual syndromes, which may include earlier age of onset: "Complicated parkinsonism such as MSA and PSP generally do not appear to have a high recurrence risk. However, in the case of familial or unusual syndromes, which may include earlier age of onset, consideration to sequence the MAPT gene is suggested. In MSA approximately 10% of patients have a spinocerebellar ataxia (SCA) expansion."Created: 10 Jun 2016, 10:45 a.m.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dementia, frontotemporal, with or without parkinsonism, 600274
- {Parkinson disease, susceptibility to}, 168600
- Pick disease, 172700
- Supranuclear palsy, progressive, 601104
- Supranuclear palsy, progressive atypical, 260540
- Tauopathy and r
- Pick disease, 172700
- PARKINSON-DEMENTIA SYNDROME
- Tags
- OMIM
- 157140
- Clinvar variants
- Variants in MAPT
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MAPT were set to 28334843
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MAPT was added to Early onset and familial Parkinson's Diseasepanel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MAPT was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MAPT was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)MAPT was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert