Dystonia - complex
Gene: APTX
APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene disease association with dystonia a presenting feature in childhood in most cases of EOAH.
PMID: 15876520 - two sibs with compound het mutations in APTX gene. Both siblings present with early onset ataxia with oculomotor apraxia. They both developed severe dystonia in early childhood.
The article references other studies that have identified mutations in APTX variants in individuals with a complex phenotype including dystonia.Created: 5 Dec 2024, 3:19 a.m. | Last Modified: 5 Dec 2024, 3:19 a.m.
Panel Version: 0.240
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0008842
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Ataxia-oculomotor apraxia type 1
- Dystonia
- 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
8 Dec 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aptx has been classified as Green List (High Evidence).
8 Dec 2024, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: APTX were set to
27 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: APTX was added gene: APTX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia-oculomotor apraxia type 1; Dystonia