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| Ataxia and cerebellar anomalies - narrow panel v8.36 | RNU12 | Ida Ertmanska commented on gene: RNU12: Comment on list classification: There is one large consanguineous pedigree reported in literature, with a biallelic RNU12 mutation segregating with early-onset ataxia. RNU12 should be rated Red for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.36 | RNU12 |
Ida Ertmanska gene: RNU12 was added gene: RNU12 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 27863452; 33577674 Phenotypes for gene: RNU12 were set to ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 Review for gene: RNU12 was set to RED Added comment: PMID: 27863452 Elsaid et al., 2017 Report of a large consanguineous pedigree with 6 individuals presenting with early-onset ataxia (onset <2 yrs old). Affected individuals were homozygous for RNU12 84C>U mutation. Method: WGS confirmed by Sanger. 2 other mutations segregates with disease in a recessive manner, affecting non-coding regions of genes POLDIP3 and PACSIN2 (uncertain significance). Affected individuals showed a significant increase in RNU12 snRNA levels; expression of POLDIP3 and PACSIN2 did not differ between affected and unaffected members. Phenotype spectrum: truncal ataxia 6/6, abnormal cerebellum 5/5 (5 assessed), hypotonia in infancy 5/6, mild learning difficulties 4/6, seizures (febrile / complex partial) 4/6, dysarthric speech 5/6, abnormal gait & falls 5/6. Functional evidence: PMID: 33577674 Norppa and Frilander, 2021: Show that the 84C>U mutation leads to accelerated decay of the RNU12 snRNA, resulting in significantly reduced steady-state U12 snRNA levels (cell line model). This gene is putatively linked to Spinocerebellar ataxia, autosomal recessive 33, MIM:620208 and linked to CDAGS syndrome, MIM:603116 (OMIM accessed 19th Dec 2025). Sources: Literature |
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