Lysosomal storage disorder
Gene: ATP13A2EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:23 a.m. | Last Modified: 1 Feb 2023, 11:23 a.m.
Panel Version: 2.3
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene for Parkinson disease 9. At least five variants reported in at least five unrelated cases, together with supportive functional studies.Created: 16 Mar 2021, 6:17 p.m. | Last Modified: 16 Mar 2021, 6:17 p.m.
Panel Version: 1.61
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 16 Mar 2021, 6:12 p.m. | Last Modified: 16 Mar 2021, 6:12 p.m.
Panel Version: 1.61
Zornitza Stark (Australian Genomics)
Protein is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation.
PMID: 28137957 - 3 families with complicated hereditary spastic paraplegia. Supported by functional studies showing increased lysosomal size with aberrant material inside, and reduced lysosome activity.
PMID: 31996848 - protein acts as a lysosomal polyamine exporter. At high concentrations polyamines induce cell toxicity, which is exacerbated by ATP13A2 loss due to lysosomal dysfunction, lysosomal rupture and cathepsin B activation.
Sources: Expert listCreated: 24 Jul 2020, 6:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 78, autosomal recessive, MIM# 617225
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 78, autosomal recessive OMIM:617225
- autosomal recessive spastic paraplegia type 78 MONDO:0014975
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Hereditary spastic paraplegia
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: ATP13A2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to ATP13A2. Source NHS GMS was added to ATP13A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: ATP13A2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, MIM# 617225 to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ATP13A2 was added gene: ATP13A2 was added to Lysosomal storage disorder. Sources: Expert list Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957; 31996848 Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, MIM# 617225 Review for gene: ATP13A2 was set to GREEN gene: ATP13A2 was marked as current diagnostic