Mitochondrial disease
Gene: APTXEnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia-oculomotor apraxia syndrome is an early-onset cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminaemia.
More than 20 unrelated families reported.Created: 29 Dec 2021, 3:05 a.m. | Last Modified: 29 Dec 2021, 3:05 a.m.
Panel Version: 0.10366
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Publications
Bryony Thompson (Royal Melbourne Hospital)
APTX deficiency impairs mitochondrial function, demonstrated in multiple publications and experiments. This is a well-established ataxia gene.
Sources: Expert listCreated: 26 Feb 2020, 4:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aptx has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aptx has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: APTX was added gene: APTX was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 30986824; 26256098 Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Review for gene: APTX was set to GREEN