Familial cerebral small vessel disease

Gene: ITM2B

Red List (low evidence)

ITM2B (integral membrane protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 4 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.

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

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

History Filter Activity

4 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ITM2B were set to 10775542; 11193180; 10391242; 10781099

4 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ITM2B were set to ischaemic stroke; haemorrhagic stroke; stroke; spastic tetraparesis; tetraparesis; ementia, familial British 176500; Dementia, familial Danish 117300

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ITM2B were set to 10775542; 11193180

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: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

ITM2B was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

ITM2B was added to Familial cerebral small vessel diseasepanel. Sources: Literature

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

ITM2B was created by rheatan