Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R56 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | 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 |
R-numbers: R58 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | 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 |