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Syndromic Retinopathy

Gene: ATXN7

No list
ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Added to panel as an STR under SCA7
Created: 20 Jun 2021, 12:27 a.m. | Last Modified: 20 Jun 2021, 12:27 a.m.
Panel Version: 0.167
Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Created: 18 Apr 2020, 6:59 a.m. | Last Modified: 18 Apr 2020, 6:59 a.m.
Panel Version: 0.42
Adult onset progressive cerebellar ataxia associated with pigmental macular dystrophy, caused by a highly unstable CAG repeat expansion. On mutated alleles, CAG repeat size was highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranged from 7 to 17 repeats.
Sources: Expert list
Created: 18 Apr 2020, 6:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 7 MIM#164500

Publications

Mode of pathogenicity
Other

Created: 18 Apr 2020, 6:58 a.m.

Panel version: Imported from Ataxia - adult onset panel version 0.41

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Removed
  • Expert list
  • RetNet
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None
Panels with this gene

History Filter Activity

20 Jun 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn7 has been removed from the panel.

21 May 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: ATXN7.

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: ATXN7 was added gene: ATXN7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ATXN7 was set to Unknown