Ataxia and cerebellar anomalies - narrow panelGene: ATXN7
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 4:39 p.m. | Last Modified: 5 Nov 2021, 4:39 p.m.
Panel Version: 2.256
Phenotypes for gene: ATXN7 were changed from Spinocerebellarataxia7,164500 to Spinocerebellar ataxia 7, OMIM:164500
Mode of inheritance for gene: ATXN7 was changed from Unknown to Other
Tag nucleotide-repeat-expansion tag was added to gene: ATXN7. Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Rebecca Foulger: Comment on list classification
gene: ATXN7 was added gene: ATXN7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN7 was set to Unknown Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia7,164500 Mode of pathogenicity for gene: ATXN7 was set to Other - please provide details in the comments