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Early-onset Dementia

Gene: CHMP2B

Green List (high evidence)
CHMP2B (charged multivesicular body protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000083937
EnsemblGeneIds (GRCh37): ENSG00000083937
OMIM: 609512, Gene2Phenotype
CHMP2B is in 5 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well-established gene disease association. Definitive classification by ClinGen ALS GCEP on 07/12/2022

PMID: 20301378: Age of onset is typically between the ages of 46 and 65.
CHMP2B-FTD occurs through a gain of function mechanism.

PMID: 16041373 c.532-1 G>C - founder variant in the Denmark population.
Created: 11 Aug 2023, 5:44 a.m. | Last Modified: 11 Aug 2023, 5:44 a.m.
Panel Version: 0.160

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795; MONDO:0010936)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 11 Aug 2023, 5:44 a.m.
Last Modified: 11 Aug 2023, 5:44 a.m.
Panel version: 0.160

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795
  • MONDO:0010936)
OMIM
609512
Clinvar variants
Variants in CHMP2B
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: chmp2b has been classified as Green List (High Evidence).

21 Aug 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CHMP2B were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795; MONDO:0010936)

21 Aug 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CHMP2B were set to

21 Aug 2023, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: CHMP2B was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

21 Aug 2023, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: CHMP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

21 Aug 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: CHMP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Aug 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: CHMP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHMP2B was added gene: CHMP2B was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: CHMP2B was set to Unknown