Familial cerebral small vessel disease
Gene: CST3Tagged gene to indicate possible founder mutation.Created: 8 Dec 2016, 2:20 p.m.
Comment when marking as ready: Single variant reported in numerous Icelandic families, potential founder variantCreated: 4 Jul 2016, 8:25 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 8:24 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 8:22 a.m.
Hereditary cerebral haemorrhage with amyloidosis - Icelandic type.Created: 24 Jun 2016, 9:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
stroke; haemorrhagic stroke; dementia;
Publications
Phenotypes for gene: CST3 were changed from Stroke; haemorrhagic stroke; dementia; Cerebral amyloid angiopathy 105150 to Cerebral amyloid angiopathy, OMIM:105150
Phenotypes for CST3 were set to Stroke; haemorrhagic stroke; dementia; Cerebral amyloid angiopathy 105150
CST3 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for CST3 were set to Dementia; cognitive impairment; cerebral small vessel disease; lobar haemorrhage; intracerebral haemorrhage; Cerebral amyloid angiopathy 105150
CST3 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
CST3 was created by rheatan