Intellectual disability update Jan 2018
Gene: MAPTEnsemblGeneIds (GRCh38): ENSG00000186868
EnsemblGeneIds (GRCh37): ENSG00000186868
OMIM: 157140, Gene2Phenotype
MAPT is in 5 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Associated with Dementia, frontotemporal, with or without parkinsonism (MIM: 600274), Pick disease (MIM:172700), Supranuclear palsy, progressive (MIM: 601104), Supranuclear palsy, progressive atypical (MIM:260540), {Parkinson disease, susceptibility to} (MIM: 168600) in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.Created: 27 Feb 2018, 4:19 p.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- OMIM
- 157140
- Clinvar variants
- Variants in MAPT
- Penetrance
- None
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MAPT was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
Created
Ellen McDonagh (Genomics England Curator)MAPT was created by Ellen McDonagh