Hereditary ataxia
Gene: RUBCN
Five individuals from two consanguineous Saudi families have been identified (PMID: 20826435; 32450808) who presented with early-onset ataxia, dysarthria, and developmental delay. All harboured the same c.2624delC variant, which was confirmed to be a founder variant by autozygosity mapping. Limited functional data showing the variant results in mislocalisation of the mutant protein from the late endosome and lysosomes to diffuse cytosolic distribution.
*Note a third publication (PMID:30237576) refers to the same sib pair as in PMID:32450808. The variants appear distinct as the two papers refer to different reference sequences (NM_014687 vs NM_001145642.2) but the variant/case are in fact the same.
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Overall as there is only a single variant in a single population with only limited in vitro functional support, maintaining Red rating on this panel until further evidence on the gene/variants emerges.Created: 16 Jun 2021, 4 p.m. | Last Modified: 16 Jun 2021, 4 p.m.
Panel Version: 1.224
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
Publications
Updated gene symbol from KIAA0226 to HGNC approved gene RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein.
Removed new-gene-name-tagCreated: 6 Nov 2017, 3:09 p.m.
added new-gene-name tagCreated: 9 Dec 2016, 4:34 p.m.
Looks like only single familyCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: RUBCN were set to PMID: 20826435
Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
RUBCNL was changed to RUBCN
KIAA0226 was changed to RUBCNL
new-gene-name was removed from KIAA0226. Panel: Hereditary ataxia
This gene has been classified as Red List (Low Evidence).
Publications for KIAA0226 were set to PMID: 20826435
KIAA0226 was added to Hereditary ataxiapanel. Sources: UKGTN