Early onset dystonia
Gene: CHMP2BEnsemblGeneIds (GRCh38): ENSG00000083937
EnsemblGeneIds (GRCh37): ENSG00000083937
OMIM: 609512, Gene2Phenotype
CHMP2B is in 6 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Internally reviewed and promoted to green.Created: 22 Aug 2016, 12:47 p.m.
Is on the Dementia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 9:22 a.m.
Comment on list classification: Promoted due to feedback from Huw Morris (UCL).Created: 10 Jun 2016, 9:20 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
- familial frontotemporal lobar degeneration (ALS17)
- OMIM
- 609512
- Clinvar variants
- Variants in CHMP2B
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHMP2B were set to Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; familial frontotemporal lobar degeneration (ALS17)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CHMP2B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHMP2B were set to Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()CHMP2B was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory