Dystonia - complex
Gene: MAPTEnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dystonia has been reported in two cases. Cannot find evidence that dystonia is a prominent feature associated with MAPT variants.
Sources: Expert listCreated: 6 Apr 2020, 1:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia, frontotemporal, with or without parkinsonism MIM#600274
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Dementia, frontotemporal, with or without parkinsonism MIM#600274
- OMIM
- 157140
- Clinvar variants
- Variants in MAPT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mapt has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mapt has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MAPT was added gene: MAPT was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MAPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPT were set to 17319286; 15883319 Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism MIM#600274 Review for gene: MAPT was set to AMBER