Neurodegeneration with brain iron accumulation
Gene: ATP13A2
ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Kufor-Rakeb syndrome is a rare form of juvenile onset Parkinson Disease. Affected individuals an present with spasticity and dementia and some individuals can also show brain iron accumulation on MRI.
Brain iron accumulation is not a common feature of this condition but has been reported in >3 affected individuals reported with variants in ATP13A2.Created: 3 Dec 2024, 5:22 a.m. | Last Modified: 3 Dec 2024, 5:22 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome MONDO:0011706
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Kufor-Rakeb syndrome (OMIM 606693)
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- None
- 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
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP13A2 was added gene: ATP13A2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome (OMIM 606693)