RNU4-2

RNA, U4 small nuclear 2

3 disorders 2 causative 1 untyped 12q24.31 RNA, small nuclear

HGNC:10193 Monarch NCBI Gene 26834 ENSG00000202538 OMIM 620823

Previous symbols: RNU4C, RNU4-1B, RNU4B1. Aliases: U4c, U4b, U4A.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
RNU4-2-Related Autosomal Recessive Neurodevelopmental Disorder	causative germline	mechanism: Biallelic RNU4-2 Stem II, K-Turn or Sm-Site Variants; Reduced RNU4-2 U4 snRNA Level
U4 and U6 snRNA Gene-Related Retinitis Pigmentosa	causative germline	mechanism: U4/U6 Three-Way Junction snRNA Variant
ReNU Syndrome	untyped Causative	mechanism: RNU4-2 Critical-Region Variant Disrupts U4 snRNA / Spliceosome Function

ClinGen gene–disease validity · snapshot 2026-10-24 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
inherited retinal dystrophy MONDO:0019118	AD	Strong 2026-10-01	Inherited Retinal Dystrophy not named
neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language MONDO:0971172	AD	Strong 2025-09-03	ReNU Syndrome untyped

Mechanism modules · computed from kb/

spliceosome_component_dysfunction via ReNU Syndrome, RNU4-2-Related Autosomal Recessive Neurodevelopmental Disorder, U4 and U6 snRNA Gene-Related Retinitis Pigmentosa

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.