Hereditary ataxia

Gene: RUBCN

Red List (low evidence)

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

• 20826435
• 32450808

Updated gene symbol from KIAA0226 to HGNC approved gene RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein.
Removed new-gene-name-tag

Created: 6 Nov 2017, 3:09 p.m.

added new-gene-name tag

Created: 9 Dec 2016, 4:34 p.m.

Red List (low evidence)

Looks like only single family

Created: 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