Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ataxia with Oculomotor Apraxia
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
- Fetal anomalies
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: APTX was added gene: APTX was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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