Adult onset neurodegenerative disorder
Gene: MAPTComment on phenotypes: Previous phenotypes:
Dementia, frontotemporal, with or without parkinsonism, 600274;Supranuclear palsy, progressive, OMIM:601104;clinical presentation suggestive of cortico-basal/PSP syndrome;Parkinson disease, susceptibility to}, OMIM:168600;Pick disease, OMIM:172700;Clinical syndrome FTLD (Frontotemporal lobar degeneration);Supranuclear palsy, progressive atypical, OMIM:260540Created: 29 Mar 2021, 10:45 a.m. | Last Modified: 29 Mar 2021, 10:45 a.m.
Panel Version: 2.104
adult onset, progressive, >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540
Mean age at onset 45 years.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MAPT were changed from Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540 to Dementia, frontotemporal, with or without parkinsonism, OMIM:600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540
Source Wessex and West Midlands GLH was added to MAPT.
Publications for gene MAPT were changed from 20301678; 28334843 to 9641683; 9789048; 28334843; 20301678
Source Yorkshire and North East GLH was added to MAPT.
Source NHS GMS was added to MAPT.
Source London North GLH was added to MAPT.
Louise Daugherty: Comment on phenotypes: amended
Tag treatable tag was added to gene: MAPT.
Added phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Supranuclear palsy, progressive atypical, 260540 for gene: MAPT
gene: MAPT was added gene: MAPT was added to Neurodegenerative disorders - adult onset. 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 20301678; 28334843 Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism, 600274; Clinical syndrome FTLD (Frontotemporal lobar degeneration)