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Early-onset Parkinson disease

Gene: APP

Amber List (moderate evidence)
APP (amyloid beta precursor protein)
EnsemblGeneIds (GRCh38): ENSG00000142192
EnsemblGeneIds (GRCh37): ENSG00000142192
OMIM: 104760, Gene2Phenotype
APP is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Primary association is with Alzheimer's disease rather than Parkinson's.
Created: 25 Aug 2020, 9:45 a.m. | Last Modified: 25 Aug 2020, 9:45 a.m.
Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alzheimer disease 1, familial, MIM# 104300

Created: 25 Aug 2020, 9:45 a.m.
Last Modified: 25 Aug 2020, 9:45 a.m.
Panel version: 0.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Alzheimer disease 1, familial, MIM# 104300
OMIM
104760
Clinvar variants
Variants in APP
Penetrance
None
Panels with this gene

History Filter Activity

25 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: app has been classified as Amber List (Moderate Evidence).

25 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APP were changed from to Alzheimer disease 1, familial, MIM# 104300

25 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: APP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: app has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APP was added gene: APP was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: APP was set to Unknown