Dystonia - complex
Gene: CHMP2B

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported with dystonia as a feature of the condition.
Created: 5 Apr 2020, 5:53 a.m. | Last Modified: 5 Apr 2020, 5:53 a.m.

Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dementia, familial, nonspecific MIM#600795

Publications

12451202

Created: 5 Apr 2020, 5:53 a.m.
Last Modified: 5 Apr 2020, 5:53 a.m.
Panel version: 0.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

familial frontotemporal lobar degeneration (ALS17)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Dystonia

OMIM

609512

Clinvar variants

Variants in CHMP2B

Penetrance

None

Publications

20301378

Panels with this gene

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chmp2b has been classified as Red List (Low Evidence).

27 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CHMP2B was added gene: CHMP2B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHMP2B were set to 20301378 Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia

Dystonia - complex Gene: CHMP2B