Hereditary ataxia
Gene: APTXEnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:56 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence. Postives in our cohortCreated: 24 Nov 2015, 4:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with Oculomotor Apraxia ; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Ataxia with Oculomotor Apraxia
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset neurodegenerative disorder
- 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
- Fetal anomalies
History Filter Activity
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene APTX was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)APTX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene APTX was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)APTX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)APTX was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN