| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.16 | MAPT | Bryony Thompson Marked gene: MAPT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.16 | MAPT | Bryony Thompson Gene: mapt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.16 | MAPT | Bryony Thompson Classified gene: MAPT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.16 | MAPT | Bryony Thompson Gene: mapt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.15 | MAPT |
Bryony Thompson gene: MAPT was added gene: MAPT was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPT were set to 40100285; 37730935; 31190169; 29215752 Phenotypes for gene: MAPT were set to amyotrophic lateral sclerosis, MONDO:0004976 Review for gene: MAPT was set to GREEN Added comment: DeBertier2025 reports four ALS families (five patients) with dominant MAPT missense variants (p.P364S in three families, p.I308T in one), supported by variant‑specific cellular assays. Trafela2017 describes a Slovene family with MAPT p.P364S presenting as frontotemporal dementia, parkinsonism and motor neurone disease (FTDP‑17), providing neuropathological but not variant‑specific functional data. Erro2019 identifies a heterozygous MAPT p.P301T variant in a single family with primary lateral sclerosis (PLS), but segregation with the PLS phenotype is undocumented and functional studies are limited to biochemical analyses. Ferrari2023 reports a solitary Italian case of Parkinsonism‑ALS carrying a novel MAPT p.Pro494Leu variant; the variant is classified VUS, segregation is unknown and functional evidence is absent, with the authors suggesting it may act as a risk factor rather than a monogenic cause. Sources: Literature |
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