Leukodystrophy - adult onset

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

White-matter abnormalities have been reported in symptomatic and pre-symptomatic carriers of MAPT pathogenic variants.
Sources: Literature
Created: 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

1 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).

1 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).

1 Apr 2024, Gel status: 1

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