Genomics England
GMS Panels
Panels
Genes and Entities

PSEN1

presenilin 1
OMIM: 104311
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary spastic paraplegia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alzheimer disease, type 3, with or without spastic paraparesis, OMIM:607822
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
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 Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
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