Leukodystrophy - adult onset
Gene: MAPTEnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White-matter abnormalities have been reported in symptomatic and pre-symptomatic carriers of MAPT pathogenic variants.
Sources: LiteratureCreated: 1 Apr 2024, 6:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
semantic dementia MONDO:0010857
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- semantic dementia MONDO:0010857
- OMIM
- 157140
- Clinvar variants
- Variants in MAPT
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mapt has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mapt has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: MAPT was added gene: MAPT was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPT were set to 33802612; 36970046 Phenotypes for gene: MAPT were set to semantic dementia MONDO:0010857 Mode of pathogenicity for gene: MAPT was set to Other Review for gene: MAPT was set to GREEN gene: MAPT was marked as current diagnostic