Early onset dystonia
Gene: APTX
APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
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