Hereditary ataxiaGene: RUBCN
Updated gene symbol from KIAA0226 to HGNC approved gene RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein.
Created: 6 Nov 2017, 3:09 p.m.
added new-gene-name tag
Created: 9 Dec 2016, 4:34 p.m.
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
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