Hereditary ataxia with onset in adulthood
Gene: APTXEnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple families in literature and positives within our own cohortCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early onset ataxia 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
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Ataxia with Oculomotor Apraxia
- Early onset ataxia with oculomotor apraxia and hypoalbuminemia
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- DDG2P
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Early onset ataxia with oculomotor apraxia and hypoalbuminemia for gene: APTX
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to APTX.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to APTX.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: APTX was added gene: APTX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia