Familial cerebral small vessel disease
Gene: ITM2BComment when marking as ready: Only two variants reported one for British and one for Danish dementiaCreated: 4 Jul 2016, 10:20 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 10:20 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 10:04 a.m.
Familial British Dementia, Familial Danish DementiaCreated: 24 Jun 2016, 9:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ischaemic stroke; haemorrhagic stroke; stroke; spastic tetraparesis; tetraparesis; dementia;
Publications
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for ITM2B were set to 10775542; 11193180; 10391242; 10781099
Phenotypes for ITM2B were set to ischaemic stroke; haemorrhagic stroke; stroke; spastic tetraparesis; tetraparesis; ementia, familial British 176500; Dementia, familial Danish 117300
Publications for ITM2B were set to 10775542; 11193180
This gene has been classified as Green List (High Evidence).
ITM2B was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
ITM2B was added to Familial cerebral small vessel diseasepanel. Sources: Literature
ITM2B was created by rheatan