KEGG   VARIANT: 26832v1
Entry
26832v1                      Variant                               
Name
RNU5B mutation
Type
Loss of function
Gene
RNU5B-1  RNA, U5B small nuclear 1 [KO:K14279]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 621090
Network
nt06547  Spliceosome
Disease
H02997  Neurodevelopmental disorder with seizures and joint laxity
Reference
PMID:40442284
  Authors
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S
  Title
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
  Journal
Nat Genet 57:1362-1366 (2025)
DOI:10.1038/s41588-025-02209-y
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