Ataxia and cerebellar anomalies - narrow panelGene: ATXN3
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 5 Nov 2021, 4:30 p.m. | Last Modified: 5 Nov 2021, 4:30 p.m.
Panel Version: 2.254
Mode of inheritance for gene: ATXN3 was changed from Unknown to Other
Phenotypes for gene: ATXN3 were changed from to Machado-Joseph disease, OMIM:109150
Tag nucleotide-repeat-expansion tag was added to gene: ATXN3. Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Rebecca Foulger: Comment on list classification
gene: ATXN3 was added gene: ATXN3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN3 was set to Unknown Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments