Hereditary ataxia

Gene: ATXN7

Red List (low evidence)

ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 12 panels

4 reviews

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:50 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Trinucleotide repeat
Created: 21 Jul 2016, 7:46 a.m.

emma baple (Genomics England Curator)

Comment when marking as ready: Trinucleotide repeat expansion currently not appropriate
Created: 11 Jul 2016, 4:55 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
Spinocerebellarataxia7,164500

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
  • Spinocerebellarataxia7,164500
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for ATXN7 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 ATXN7 was changed to Other - please provide details in the comments

11 Jul 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).

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)

ATXN7 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)

ATXN7 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)

ATXN7 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen