Ataxia and cerebellar anomalies - narrow panelGene: ATXN1
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 4:52 p.m. | Last Modified: 9 Nov 2021, 4:52 p.m.
Panel Version: 2.263
Mode of inheritance for gene: ATXN1 was changed from Unknown to Other
Phenotypes for gene: ATXN1 were changed from Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400
Tag nucleotide-repeat-expansion tag was added to gene: ATXN1. Tag currently-ngs-unreportable tag was added to gene: ATXN1.
Rebecca Foulger: Comment on list classification
gene: ATXN1 was added gene: ATXN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN1 was set to Unknown Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400 Mode of pathogenicity for gene: ATXN1 was set to Other - please provide details in the comments