Ataxia and cerebellar anomalies - narrow panelGene: ATXN10
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 1:45 p.m. | Last Modified: 5 Nov 2021, 1:45 p.m.
Panel Version: 2.248
Tag nucleotide-repeat-expansion tag was added to gene: ATXN10. Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Mode of inheritance for gene: ATXN10 was changed from Unknown to Other
Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516
Rebecca Foulger: Comment on list classification
gene: ATXN10 was added gene: ATXN10 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN10 was set to Unknown Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516 Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments