Structural eye disease
Gene: ATP13A2EnsemblGeneIds (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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- KUFOR-RAKEB SYNDROME, 606693
- SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225
- Eye Disorders
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- None
- Panels with this gene
-
- Early onset dystonia
- Hereditary spastic paraplegia
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Hereditary neuropathy or pain disorder
- DDG2P
- Glaucoma (developmental)
- Retinal disorders
- Fetal anomalies
- Hereditary spastic paraplegia, childhood onset
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Neurodegenerative disorders, adult onset
- Lysosomal storage disorder
- Hereditary spastic paraplegia, adult onset
- Dystonia, chorea or related movement disorder, adult onset
- Neuronal ceroid lipofuscinosis
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes KUFOR-RAKEB SYNDROME, 606693; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225 for gene: ATP13A2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ATP13A2 was added gene: ATP13A2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ATP13A2 was set to Phenotypes for gene: ATP13A2 were set to Eye Disorders