Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R56 Signed-off version 3.12 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440, Huntington disease-like 1, OMIM:603218, Gerstmann-Straussler disease, OMIM:137440, Creutzfeldt-Jakob disease, OMIM:123400 |
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440, Gerstmann-Straussler disease, OMIM:137440, Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656 |
R-numbers: R58 Signed-off version 4.41 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Creutzfeldt-Jakob disease, OMIM:123400, Huntington disease-like 1, OMIM:603218, Dementia, Gerstmann-Straussler disease, OMIM:137440 |
Component of the following Super Panels:
Signed-off version 4.40 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Gerstmann-Straussler disease, Huntington disease-like 1, Insomnia, fatal familial |
R-numbers: R57 Signed-off version 3.56 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Creutzfeldt-Jakob disease 123400, Huntington disease-like 1 603218, Cerebral amyloid angiopathy, PRNP-related 137440, Gerstmann-Straussler disease 137440 |
R-numbers: R54 Signed-off version 4.26 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Autosomal Dominant Ataxia, Multiple allelic disorders reported, Huntington disease-like 1, Gerstmann-Straussler disease, Creutzfeldt-Jakob disease, Insomnia, fatal familial |