Familial cerebral small vessel disease
Gene: APPComment 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 StudyCreated: 1 Jul 2016, 4:41 p.m.
Hereditary cerebral haemorrhage with amyloidosis - Dutch type (HCHWA-Dutch), HCHWA-Flemish, HCHWA-Italian, HCHWA-Piedmont, HCHWA-Iowa, HCHWA-ArcticCreated: 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
Phenotypes for gene: APP were changed from Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714; Haemorrhagic stroke; Ischaemic stroke; Leukoencephalopathy; Seizures
This gene has been classified as Green List (High Evidence).
Phenotypes for APP were set to Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714
Publications for APP were set to 8737926; 1303239; 10821838; 20228223
APP was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
This gene has been classified as Green List (High Evidence).
APP was added to Familial cerebral small vessel diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
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
APP was added to Familial cerebral small vessel diseasepanel. Sources: Literature
APP was created by rheatan