Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: PSEN2

Green List (high evidence)

PSEN2 (presenilin 2)
EnsemblGeneIds (GRCh38): ENSG00000143801
EnsemblGeneIds (GRCh37): ENSG00000143801
OMIM: 600759, Gene2Phenotype
PSEN2 is in 3 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

Comment on list classification: One of the key genes causing heritable early onset AD
Created: 10 May 2016, 11:26 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia
OMIM
600759
Clinvar variants
Variants in PSEN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set publications

Caroline Wright (Genomics England Curator)

Publications for PSEN2 were set to 22503161; 23028126

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for PSEN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN2 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN