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 4 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dementia, familial British, 176500
OMIM
603904
Clinvar variants
Variants in ITM2B
Penetrance
Complete
Panels with this gene

History Filter Activity

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