Genomics England

PRNP

prion protein

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	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 hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Gerstmann-Straussler disease, OMIM: 137440, Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	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
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.0	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
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Gerstmann-Straussler disease, Huntington disease-like 1, Insomnia, fatal familial
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	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