Hereditary ataxia

Gene: ATXN1

Red List (low evidence)

ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 12 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Added 'currently-ngs-unreportable' tag.
Created: 30 Nov 2016, 5:10 p.m.
Comment on mode of pathogenicity: Trinucleotide expansion.
Created: 21 Jul 2016, 7:44 a.m.

emma baple (Genomics England Curator)

Comment when marking as ready: Good evidence, but due to a trinucleotide expansion so exclude for now
Created: 3 Jun 2016, 11:54 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.

Phenotypes
Spinocerebellarataxia1,164400

Mode of pathogenicity
Other - please provide details in the comments

Details

Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinocerebellarataxia1,164400
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
601556
Clinvar variants
Variants in ATXN1
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN1 was changed to Other - please provide details in the comments

21 Jul 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN1 was changed to Other - please provide details in the comments

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN1 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN1 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen