MAPT

microtubule associated protein tau
OMIM: 157140, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green MAPT in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Expert Radboud University Medical Center, Nijmegen Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 {Parkinson disease, susceptibility to}, 168600 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 Tauopathy and r Pick disease, 172700 PARKINSON-DEMENTIA SYNDROME clinical presentation suggestive of cortico-basal/PSP syndrome Tags treatable
Green MAPT in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 Clinical syndrome FTLD (Frontotemporal lobar degeneration) Tags treatable
Green MAPT in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes 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 Tags treatable
Red MAPT in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 {Parkinson disease, susceptibility to}, 168600
Green MAPT in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Supranuclear palsy, progressive, OMIM:601104 Supranuclear palsy, progressive atypical, OMIM:260540 {Parkinson disease, susceptibility to}, OMIM:168600 Dementia, frontotemporal, with or without parkinsonism, OMIM:600274 Pick disease, OMIM:172700
Green MAPT in Severe Paediatric Disorders Version 1.184	review	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