Retinal disordersGene: ATXN7
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 4:50 p.m. | Last Modified: 5 Nov 2021, 4:50 p.m.
Panel Version: 2.231
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Mode of pathogenicity for gene: ATXN7 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag nucleotide-repeat-expansion tag was added to gene: ATXN7. Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Gene: atxn7 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: ATXN7 was changed from to Other
Phenotypes for gene: ATXN7 were changed from to Spinocerebellar ataxia 7, OMIM:164500
gene: ATXN7 was added gene: ATXN7 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ATXN7 was set to