Hereditary spastic paraplegia

Gene: PSEN1

Red List (low evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 9:01 a.m.

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

emma baple (Genomics England Curator)

Comment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here
Created: 10 May 2016, 12:55 p.m.

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen