Retinal 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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
retinal panel?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Ellen McDonagh (Genomics England Curator)
Does not seem to be enough evidence for this gene to be on this panel (OMIM and Gene2Phenotype)Created: 1 Jun 2016, 11:13 a.m.
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- 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
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ATP13A2.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP13A2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATP13A2 was created by ellenmcdonagh