RNU12-related minor spliceopathy disorder
MONDO:1060223Mondo
Findings
No curated finding names RNU12-related minor spliceopathy disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary disease caused by a variation in the RNU12 gene, resulting in abnormal splicing of pre-mRNA via the minor spliceosome. The phenotypic spectrum includes craniosynostosis-anal anomalies-porokeratosis (CDAGS) syndrome and autosomal recessive spinocerebellar ataxia 33.
Definition from the Mondo Disease Ontology (MONDO:1060223), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:19380HGNC:19380
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of