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  2. Ataxia and cerebellar anomalies - narrow panel
  3. ATN1
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Ataxia and cerebellar anomalies - narrow panel

Gene: ATN1

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

1 review

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 4 Nov 2021, 5:04 p.m. | Last Modified: 4 Nov 2021, 5:04 p.m.
Panel Version: 2.244
Created: 4 Nov 2021, 5:04 p.m.
Last Modified: 4 Nov 2021, 5:04 p.m.
Panel version: 2.244

History Filter Activity

5 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATN1 were changed from to Dentatorubral-pallidoluysian atrophy, OMIM:125370

4 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

4 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: ATN1. Tag currently-ngs-unreportable tag was added to gene: ATN1.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: ATN1 was added gene: ATN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATN1 was set to Other - please specifiy in evaluation comments Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments