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Early-onset Parkinson disease

Gene: ATXN3

No list
ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

This is an STR disorder.
Created: 20 Jul 2022, 2:55 a.m. | Last Modified: 20 Jul 2022, 2:55 a.m.
Panel Version: 0.207
Created: 20 Jul 2022, 2:55 a.m.
Last Modified: 20 Jul 2022, 2:55 a.m.
Panel version: 0.207

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 9:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar 3; Machado Joseph disease; Ataxia; Parkinsonism; OMIM 109150

Publications

Created: 17 Jul 2022, 9:38 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Spinocerebellar 3
  • Machado Joseph disease
  • Ataxia
  • Parkinsonism
  • OMIM 109150
Tags
STR
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: ATXN3.

20 Jul 2022, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atxn3 has been removed from the panel.

17 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: ATXN3 was added gene: ATXN3 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN3 were set to PMID: 11176969; 7574470 Phenotypes for gene: ATXN3 were set to Spinocerebellar 3; Machado Joseph disease; Ataxia; Parkinsonism; OMIM 109150 Review for gene: ATXN3 was set to GREEN