Genomics England
GMS Panels
Panels
Genes and Entities

RNU4-2

RNA, U4 small nuclear 2
PanelMode of inheritanceDetails
6 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
RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
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, NOT imprinted
Phenotypes
ReNU syndrome, OMIM:620851
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ReNU syndrome, OMIM:620851
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, NOT imprinted
Phenotypes
ReNU syndrome, OMIM:620851
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinitis pigmentosa 102, OMIM:621560
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ReNU syndrome, OMIM:620851