Glaucoma (developmental)
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
associated with nystagmus but can't find any evience that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KUFOR-RAKEB SYNDROME; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; 606693; 617225
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). associated with nystagmus but can't find any evience that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KUFOR-RAKEB SYNDROME, 606693; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- Panels with this gene
-
- Glaucoma (developmental)
- Hereditary spastic paraplegia, adult onset
- Fetal anomalies
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Lysosomal storage disorder
- Dystonia, chorea or related movement disorder, adult onset
- Neuronal ceroid lipofuscinosis
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary spastic paraplegia, childhood onset
- Intellectual disability
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Structural eye disease
- Retinal disorders
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ATP13A2 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory