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

Gene: PSEN1

Green List (high evidence)

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

3 reviews

simon mead (UCL)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: format changes
Created: 6 Feb 2017, 5:18 p.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On eligibility criteria
Created: 10 May 2016, 11:28 a.m.
Comment on list classification: One of main well known causes of hereditary early onset AD
Created: 10 May 2016, 11:25 a.m.
Comment on mode of inheritance: See OMIM
Created: 10 May 2016, 11:21 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acne inversa, familial, 3, 613737
  • Alzheimer disease, type 3, 607822
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822
  • Cardiomyopathy, dilated, 1U, 613694
  • Dementia, frontotemporal, 600274
  • Pick disease, 172700
  • Clinical syndrome Alzheimer disease
OMIM
104311
Clinvar variants
Variants in PSEN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PSEN1 were set to Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, 607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822;Cardiomyopathy, dilated, 1U, 613694;Dementia, frontotemporal, 600274;Pick disease, 172700; Clinical syndrome Alzheimer disease

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

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

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: 2

Set publications

Caroline Wright (Genomics England Curator)

Publications for PSEN1 were set to 22503161;23028126

10 May 2016, Gel status: 2

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN