Dystonia - complex
Gene: ATP13A2EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
KRS is associated with a range of neurological features. Loss of gene function typically results in the multidimensional spectrum of neurological features including pyramidal, extrapyramidal and cerebellar related features.
PMID: 21094623 - 10M born to consanguineous parents.
mild mental retardation was reported prior to onset of motor symptoms
Fine tremor in hand and severe dystonic posturing of the neck.
Homozygous deletion identified in the proband c.2742_2743delTT
PMID: 20853184 - 41M presenting with a range of neurological phenotypes including dysphagia, dysarthria and mild DD whilst his brother was symptomatic as well but didn't present with dystonia.
Homozygous G877R was identified.
PMID: 20310007 - 40M born to consanguineous parents mild DD was reported along with some behavioural disturbances. He developed leg dystonia and eventually developed severe dystonia parkinsonism. Genetic analysis identified homozygous p.Thr367ArgfsX29 variant.Created: 5 Dec 2024, 5:22 a.m. | Last Modified: 5 Dec 2024, 5:22 a.m.
Panel Version: 0.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome MONDO:0011706
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Kufor-Rakeb syndrome MIM#606693
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Incidentalome
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Prepair 1000+
- Dystonia - complex
- Ataxia - adult onset
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp13a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP13A2 were changed from Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia to Kufor-Rakeb syndrome MIM#606693
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP13A2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP13A2 was added gene: ATP13A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia