Genomics England
GMS Panels
Panels
Genes and Entities

NSUN2

NOP2/Sun RNA methyltransferase family member 2
OMIM: 610916
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental Retardation, Recessive, Mental retardation, autosomal recessive 5, 611091, AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5