Hereditary neuropathy or pain disorder
Gene: ATP13A2EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ATP13A2 variants have been associated with Spastic paraplegia 78, autosomal recessive (OMIM:617225). At least five variants have been reported in at least five unrelated cases (PMID: 27217339; 28137957). PMID 28137957; 22296644, present supportive functional studies of fibroblasts from patients with rs1057519291.Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 78, autosomal recessive, OMIM:617225; Kufor-Rakeb syndrome, OMIM:606693; Kufor-Rakeb syndrome, MONDO:0011706; autosomal recessive spastic paraplegia type 78, MONDO:0014975
Publications
Alexander Rossor (UCL Institute of Neurology)
Peripheral neuropathy in individuals from 3 different families
Sources: Expert listCreated: 15 Oct 2024, 10:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; cognitive impairment; peripheral neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spastic paraplegia 78, autosomal recessive, OMIM:617225
- Kufor-Rakeb syndrome, OMIM:606693
- Kufor-Rakeb syndrome, MONDO:0011706
- autosomal recessive spastic paraplegia type 78, MONDO:0014975
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia
- 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
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Neuronal ceroid lipofuscinosis
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ATP13A2. Tag Q3_24_NHS_review was removed from gene: ATP13A2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ATP13A2. Source Expert Review Green was added to ATP13A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATP13A2 were changed from spastic paraplegia; cognitive impairment; peripheral neuropathy to Spastic paraplegia 78, autosomal recessive, OMIM:617225; Kufor-Rakeb syndrome, OMIM:606693; Kufor-Rakeb syndrome, MONDO:0011706; autosomal recessive spastic paraplegia type 78, MONDO:0014975
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ATP13A2. Tag Q3_24_NHS_review 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).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary neuropathy or pain 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: Phenotypes for gene: ATP13A2 were set to spastic paraplegia; cognitive impairment; peripheral neuropathy Penetrance for gene: ATP13A2 were set to Complete Review for gene: ATP13A2 was set to GREEN