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Severe Paediatric Disorders

Gene: MAPT

Green List (high evidence)

MAPT (microtubule associated protein tau)
EnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MAPT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dementia, frontotemporal, with or without parkinsonism, 600274 (3) | Pick disease, 172700 (3) | Supranuclear palsy, progressive, 601104 (3) | Supranuclear palsy, progressive atypical, 260540 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pick disease, 172700
  • Supranuclear palsy, progressive, 601104
  • Supranuclear palsy, progressive atypical, 260540
  • Dementia, frontotemporal, with or without parkinsonism, 600274
OMIM
157140
Clinvar variants
Variants in MAPT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3