Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R60 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Alzheimer disease, type 3, OMIM:607822, Alzheimer disease 3, MONDO:0011913, Dementia, frontotemporal, OMIM:600274, semantic dementia, MONDO:0010857 |
R-numbers: R58 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822, Dystonia, Dementia, frontotemporal, OMIM:600274, Pick disease, OMIM:172700, Alzheimer disease, type 3, OMIM:607822 |