Ataxia and cerebellar anomalies - narrow panelGene: RUBCN
Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant. Supportive in vitro assays.
Created: 12 Sep 2020, 7:43 a.m. | Last Modified: 12 Sep 2020, 7:43 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger: Comment on list classification
gene: RUBCN was added gene: RUBCN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to PMID: 20826435