Familial cerebral small vessel disease
Gene: ITM2B

ITM2B (integral membrane protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Only two variants reported one for British and one for Danish dementia
Created: 4 Jul 2016, 10:20 a.m.

Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 4 Jul 2016, 10:20 a.m.

Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 4 Jul 2016, 10:04 a.m.

Created: 4 Jul 2016, 10:04 a.m.

Panel version: 0.86

Rhea Tan (University of Cambridge)

Green List (high evidence)

Familial British Dementia, Familial Danish Dementia
Created: 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

PMID:10775542
11193180

Created: 24 Jun 2016, 9:30 a.m.

Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

ischaemic stroke
haemorrhagic stroke
stroke
spastic tetraparesis
tetraparesis
ementia, familial British 176500
Dementia, familial Danish 117300

OMIM

603904

Clinvar variants

Variants in ITM2B

Penetrance

Complete

Publications

Panels with this gene