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| Adult onset neurodegenerative disorder v2.104 | MAPT |
Ivone Leong Added comment: Comment 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:260540 |
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| Adult onset neurodegenerative disorder v2.104 | MAPT | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | MAPT | Louise Daugherty commented on gene: MAPT: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.100 | MAPT | Louise Daugherty Source Wessex and West Midlands GLH was added to MAPT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | MAPT | Tracy Lester reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | MAPT | Louise Daugherty Publications for gene MAPT were changed from 20301678; 28334843 to 9641683; 9789048; 28334843; 20301678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | MAPT | Louise Daugherty commented on gene: MAPT: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | MAPT | Nick Beauchamp reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9641683, 9789048; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | MAPT | Louise Daugherty Source Yorkshire and North East GLH was added to MAPT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | MAPT | Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | MAPT | James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | MAPT | Louise Daugherty Source NHS GMS was added to MAPT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | MAPT | Louise Daugherty Source London North GLH was added to MAPT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | MAPT | Rebecca Foulger Tag treatable tag was added to gene: MAPT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | MAPT | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | MAPT |
Rebecca Foulger 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) |
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