Childhood onset dystonia, chorea or related movement disorder
Gene: ATXN10Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 1:47 p.m. | Last Modified: 5 Nov 2021, 1:47 p.m.
Panel Version: 1.170
Mode of pathogenicity for gene: ATXN10 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: atxn10 has been classified as Red List (Low Evidence).
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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: ATXN10 were changed from Spinocerebellar ataxia 10, 603516 to Spinocerebellar ataxia 10, OMIM:603516
Mode of inheritance for gene: ATXN10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, 603516
gene: ATXN10 was added gene: ATXN10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ATXN10 was set to