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Neurodegenerative disorders - adult onset 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.
Neurodegenerative disorders - adult onset v1.100 MAPT Louise Daugherty Source Wessex and West Midlands GLH was added to MAPT.
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset v1.81 MAPT Louise Daugherty Publications for gene MAPT were changed from 20301678; 28334843 to 9641683; 9789048; 28334843; 20301678
Neurodegenerative disorders - adult onset 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.
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset v1.67 MAPT Louise Daugherty Source Yorkshire and North East GLH was added to MAPT.
Neurodegenerative disorders - adult onset v1.11 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.10 MAPT James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.9 MAPT Louise Daugherty Source NHS GMS was added to MAPT.
Neurodegenerative disorders - adult onset v1.8 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Neurodegenerative disorders - adult onset v0.2 MAPT Rebecca Foulger Tag treatable tag was added to gene: MAPT.
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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)