| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.18 | TARDBP | Bryony Thompson Marked gene: TARDBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.18 | TARDBP | Bryony Thompson Gene: tardbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.18 | TARDBP | Bryony Thompson Classified gene: TARDBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.18 | TARDBP | Bryony Thompson Gene: tardbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.17 | TARDBP |
Bryony Thompson gene: TARDBP was added gene: TARDBP was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TARDBP were set to 36247987 Phenotypes for gene: TARDBP were set to frontotemporal dementia with motor neuron disease MONDO:0017161 Review for gene: TARDBP was set to GREEN Added comment: TARDBP variants are linked to adult‑onset Parkinson disease and related atypical parkinsonian syndromes, supporting its inclusion on the Early‑onset Parkinson disease panel which focuses on abnormal extrapyramidal motor function. Parkinson disease (PD), adult onset (47‑67 years): Four families (four patients) with heterozygous missense TARDBP variants (p.G294A, p.G295S, p.S393L, p.N267S) were reported; variants are rare (gnomAD ≤8.2e‑5) and show patient‑cell functional deficits. Corticobasal syndrome (CBS) with parkinsonism, adult onset: One family (one patient) harbouring heterozygous p.N267S was described; functional deficits observed in patient cells. Progressive supranuclear palsy (PSP) with parkinsonism, adult onset: One family (one patient) with the same p.N267S variant was reported; functional assays are similar to CBS. The same evidence pattern applies as for CBS. Sources: Literature |
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