Familial cerebral small vessel 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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in this phenotype
Created: 4 Jul 2016, 8:34 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 1 Jul 2016, 4:41 p.m.

Rhea Tan (University of Cambridge)

Green List (high evidence)

Hereditary cerebral haemorrhage with amyloidosis - Dutch type (HCHWA-Dutch), HCHWA-Flemish, HCHWA-Italian, HCHWA-Piedmont, HCHWA-Iowa, HCHWA-Arctic
Created: 24 Jun 2016, 8:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Haemorrhagic stroke
  • stroke
  • ischaemic stroke
  • leukoencephalopathy
  • seizures
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714
OMIM
104760
Clinvar variants
Variants in APP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APP were set to Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for APP were set to 8737926; 1303239; 10821838; 20228223

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

APP was added to Familial cerebral small vessel diseasepanel. Sources: Expert list

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

APP was added to Familial cerebral small vessel diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APP were set to Cerebral small vessel disease; dementia; cognitive impairment; intracerebral haemorrhage; Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

APP was created by rheatan

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

APP was added to Familial cerebral small vessel diseasepanel. Sources: Literature