Genomics England
GMS Panels
Panels
Genes and Entities

PSEN1

presenilin 1
OMIM: 104311
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
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 leukodystrophy
R-numbers: R62
Signed-off version 5.0
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
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 6.6
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