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  2. Ataxia and cerebellar anomalies - narrow panel
  3. ATXN1
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Ataxia and cerebellar anomalies - narrow panel

Gene: ATXN1

Red List (low evidence)
ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 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: 9 Nov 2021, 4:52 p.m. | Last Modified: 9 Nov 2021, 4:52 p.m.
Panel Version: 2.263
Created: 9 Nov 2021, 4:52 p.m.
Last Modified: 9 Nov 2021, 4:52 p.m.
Panel version: 2.263

History Filter Activity

9 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATXN1 was changed from Unknown to Other

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATXN1 were changed from Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400

9 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: ATXN1. Tag currently-ngs-unreportable tag was added to gene: ATXN1.

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 Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: ATXN1 was added gene: ATXN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN1 was set to Unknown Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400 Mode of pathogenicity for gene: ATXN1 was set to Other - please provide details in the comments