Early-onset Parkinson disease
Gene: ATXN82 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
This is an STR disorder.Created: 20 Jul 2022, 2:54 a.m. | Last Modified: 20 Jul 2022, 2:54 a.m.
Panel Version: 0.207
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)
Sources: LiteratureCreated: 17 Jul 2022, 9:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar 8; Parkinsonism; OMIM 608768
Publications
- PMID: 24285970
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Spinocerebellar 8
- Parkinsonism
- OMIM 608768
- Tags
- OMIM
- 613289
- Clinvar variants
- Variants in ATXN8
- Penetrance
- None
- Publications
-
- PMID: 24285970
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atxn8 has been removed from the panel.
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag STR tag was added to gene: ATXN8.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: ATXN8 was added gene: ATXN8 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN8 were set to PMID: 24285970 Phenotypes for gene: ATXN8 were set to Spinocerebellar 8; Parkinsonism; OMIM 608768 Review for gene: ATXN8 was set to GREEN