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Early-onset Parkinson disease

Gene: ATXN2

No list
ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

This is an STR disorder.
Created: 20 Jul 2022, 2:56 a.m. | Last Modified: 20 Jul 2022, 2:56 a.m.
Panel Version: 0.207
Created: 20 Jul 2022, 2:56 a.m.
Last Modified: 20 Jul 2022, 2:56 a.m.
Panel version: 0.207

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 9:42 p.m.

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

Phenotypes
Spinocerebellar Ataxia 2; Parkinsonism; Myoclonus; OMIM 183090

Publications

Created: 17 Jul 2022, 9:42 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Spinocerebellar Ataxia 2
  • Parkinsonism
  • Myoclonus
  • OMIM 183090
Tags
STR
OMIM
601517
Clinvar variants
Variants in ATXN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atxn2 has been removed from the panel.

20 Jul 2022, Gel status: 0

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATXN2 were set to PMID: 11761482, 17923635

20 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: ATXN2.

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: ATXN2 was added gene: ATXN2 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN2 were set to PMID: 11761482, 17923635 Phenotypes for gene: ATXN2 were set to Spinocerebellar Ataxia 2; Parkinsonism; Myoclonus; OMIM 183090 Review for gene: ATXN2 was set to GREEN