Structural basal ganglia disorders
Gene: ATP13A2
ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a both DD and IF G2P for Kufor-Rakeb syndrome 606693. At least 8 variants reported.Created: 6 Mar 2017, 12:24 p.m.
Comment on phenotypes: Some patients with Kufor-Rakeb syndrome 606693 have neuroradiologic evidence of iron deposition in the basal ganglia (pmid 21060012).
Variants also associated with Spastic paraplegia 78, autosomal recessive 617225Created: 6 Mar 2017, 12:22 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Kufor-Rakeb syndrome 606693
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Glaucoma (developmental)
- Childhood onset hereditary spastic paraplegia
- Lysosomal storage disorder
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATP13A2 were set to Kufor-Rakeb syndrome 606693
6 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATP13A2 were set to 21060012
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)ATP13A2 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)ATP13A2 was created by Manju