Early onset dystonia
Gene: ATMComment on list classification: Movement disorders can be part of AT.Created: 5 Sep 2016, 6:41 p.m.
Is on the Autosomal Recessive Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 9:06 a.m.
Comment on list classification: Feedback from Huw Morris (UCL): Should be green for ataxia, which can involve dystonia.Created: 9 Jun 2016, 11:48 a.m.
Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia, OMIM:208900
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).
Phenotypes for ATM were set to Dystonia; Ataxia telangiectasia
Mode of inheritance for ATM was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ATM was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory