Genomics England
GMS Panels
Panels
Genes and Entities

RNU5B-1

RNA, U5B small nuclear 1
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302, RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302, RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179