Genomics England
GMS Panels
Panels
Genes and Entities

PSEN1

presenilin 1
OMIM: 104311
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary spastic paraplegia - adult onset
R-numbers: R60
Signed-off version 2.1
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 Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
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