Genes in panel

Adult onset movement disorder

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Supranuclear palsy, progressive, 601104
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • Supranuclear palsy, progressive atypical, 260540
  • {Parkinson disease, susceptibility to}, 168600
  • Pick disease, 172700
  • Tauopathy and r
  • Dementia, frontotemporal, with or without parkinsonism, 600274
  • PARKINSON-DEMENTIA SYNDROME
OMIM
157140
Clinvar variants
Variants in MAPT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MAPT.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MAPT.

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MAPT was added gene: MAPT was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPT were set to 28334843; 20301678 Phenotypes for gene: MAPT were set to Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME