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  2. Ataxia and cerebellar anomalies - narrow panel
  3. ATXN3
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Ataxia and cerebellar anomalies - narrow panel

Gene: ATXN3

Red List (low evidence)
ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 panels

1 review

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 4:30 p.m. | Last Modified: 5 Nov 2021, 4:30 p.m.
Panel Version: 2.254
Created: 5 Nov 2021, 4:30 p.m.
Last Modified: 5 Nov 2021, 4:30 p.m.
Panel version: 2.254

History Filter Activity

5 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATXN3 was changed from Unknown to Other

5 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATXN3 were changed from to Machado-Joseph disease, OMIM:109150

5 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: ATXN3. Tag currently-ngs-unreportable tag was added to gene: ATXN3.

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: ATXN3 was added gene: ATXN3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN3 was set to Unknown Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments