Childhood onset dystonia, chorea or related movement disorder
Gene: ATXN1Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 4:42 p.m. | Last Modified: 5 Nov 2021, 4:42 p.m.
Panel Version: 1.176
Only STR expansions causes disease in this geneCreated: 23 Sep 2021, 10:40 a.m. | Last Modified: 23 Sep 2021, 10:40 a.m.
Panel Version: 1.156
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Mode of pathogenicity for gene: ATXN1 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
Phenotypes for gene: ATXN1 were changed from Spinocerebellar ataxia 1, 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.
Gene: atxn1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: ATXN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Mode of inheritance for gene: ATXN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN1 were changed from to Spinocerebellar ataxia 1, 164400
gene: ATXN1 was added gene: ATXN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: ATXN1 was set to