1. Panels
  2. Early onset dementia (encompassing fronto-temporal dementia and prion disease)
  3. ITM2B
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Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: ITM2B

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

2 reviews

simon mead (UCL)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Caroline Wright (Genomics England Curator)

Comment on list classification: Lots of evidence and publications on pubmed using old gene name (BRI or BRI2)
Created: 10 May 2016, 12:22 p.m.
Created: 10 May 2016, 12:22 p.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dementia, familial British, OMIM:176500
  • ABri amyloidosis, MONDO:0008306
  • Dementia, familial Danish, OMIM:117300
  • ADan amyloidosis, MONDO:0007297
OMIM
603904
Clinvar variants
Variants in ITM2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Jan 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ITM2B were changed from Dementia, familial British, 176500 to Dementia, familial British, OMIM:176500; ABri amyloidosis, MONDO:0008306; Dementia, familial Danish, OMIM:117300; ADan amyloidosis, MONDO:0007297

5 Jan 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ITM2B were set to 10391242; 10781099

5 Jan 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ITM2B were set to

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for ITM2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ITM2B was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITM2B was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN