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

Gene: APP

Green List (high evidence)

APP (amyloid beta precursor protein)
EnsemblGeneIds (GRCh38): ENSG00000142192
EnsemblGeneIds (GRCh37): ENSG00000142192
OMIM: 104760, Gene2Phenotype
APP is in 4 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

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 the key genes causing early onset heritable AD
Created: 10 May 2016, 11:26 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Dementia
  • Clinical syndrome Alzheimer disease
OMIM
104760
Clinvar variants
Variants in APP
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

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 APP were set to 22503161; 23028126

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: 1

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

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

12 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

APP 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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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