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Stroke

Gene: APP

Green List (high 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)

Green List (high evidence)

Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive dementia.
Created: 10 Mar 2021, 12:29 a.m. | Last Modified: 10 Mar 2021, 12:29 a.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714

Publications

Created: 10 Mar 2021, 12:29 a.m.
Last Modified: 10 Mar 2021, 12:29 a.m.
Panel version: 0.65

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714
  • Cerebral amyloid angiopathy, APP-related
OMIM
104760
Clinvar variants
Variants in APP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: app has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APP were changed from Cerebral amyloid angiopathy, APP-related to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Cerebral amyloid angiopathy, APP-related

10 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: APP were set to

22 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: APP was added gene: APP was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related