Early onset dystonia
Gene: CHMP2BComment 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.
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for CHMP2B were set to Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; familial frontotemporal lobar degeneration (ALS17)
Mode of inheritance for CHMP2B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for CHMP2B were set to Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
This gene has been classified as Amber List (Moderate Evidence).
CHMP2B was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory