Early onset dystonia

Gene: APTX

Green List (high evidence)

APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 17 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Dystonia included in clinical synopsis in OMIM, plus recommendation by expert.
Created: 5 Sep 2016, 6:40 p.m.

Ellen McDonagh (Genomics England Curator)

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, 9:05 a.m.
Comment on list classification: Feedback from Huw Morris (UCL): should be green for ataxia, which can involve dystonia.
Created: 9 Jun 2016, 11:46 a.m.

History Filter Activity

17 Oct 2016, Gel status: 4

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.

5 Sep 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for APTX was changed to BIALLELIC, autosomal or pseudoautosomal

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

APTX was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory