PRNP

PanelMode of inheritanceDetails
5 panels
R-numbers: R56
Signed-off version 1.121
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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 1.137
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 2.13
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
R-numbers: R58
Signed-off version 2.178
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