Hereditary ataxia

Gene: ATN1

Red List (low evidence)

ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 14 panels

4 reviews

Alice Gardham (Genomics England)

Comment on mode of inheritance: Nucleotide repeat expansion. Tagged 1.12.16 by Alice Gardham
Created: 1 Dec 2016, 4:04 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Added 'currently-NGS-unreportable' tag.
Created: 30 Nov 2016, 5:10 p.m.

emma baple (Genomics England Curator)

Comment when marking as ready: good evidence, but trinucleotide repeat so currently not appropriate
Created: 11 Jul 2016, 4:14 a.m.

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

I don't know

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

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for ATN1 was changed to Other - please specifiy in evaluation comments

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATN1 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).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATN1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing