Thoracic dystrophies
Gene: ATXN10Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 1:45 p.m. | Last Modified: 5 Nov 2021, 1:45 p.m.
Panel Version: 1.14
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Comment on mode of pathogenicity: Nucleotide-repeat-expansion in this gene has been reported with associated with Spinocerebellar ataxia 10.Created: 30 Nov 2016, 10:39 a.m.
Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Mode of inheritance for gene: ATXN10 was changed from to Other
Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, OMIM:603516
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
ATXN10 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory