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  3. CHMP2B
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Childhood onset dystonia, chorea or related movement disorder

Gene: CHMP2B

Red List (low evidence)
CHMP2B (charged multivesicular body protein 2B)
EnsemblGeneIds (GRCh38): ENSG00000083937
EnsemblGeneIds (GRCh37): ENSG00000083937
OMIM: 609512, Gene2Phenotype
CHMP2B is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Red rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Red – onset in adulthood
Created: 12 Dec 2019, 3:47 p.m. | Last Modified: 12 Dec 2019, 3:47 p.m.
Panel Version: 0.258
Created: 12 Dec 2019, 3:47 p.m.
Last Modified: 12 Dec 2019, 3:47 p.m.
Panel version: 0.258

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Suggested by Huw and Raquel - adult onset
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • familial frontotemporal lobar degeneration (ALS17)
  • Dystonia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
OMIM
609512
Clinvar variants
Variants in CHMP2B
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to CHMP2B. Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia; familial frontotemporal lobar degeneration (ALS17) for gene: CHMP2B

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CHMP2B was added gene: CHMP2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CHMP2B was set to