NSUN2

NOP2/Sun RNA methyltransferase family member 2
OMIM: 610916, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber NSUN2 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5

Amber NSUN2 in DDG2P


Version 2.5
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091

    Green NSUN2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.66
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental Retardation, Recessive
    • Mental retardation, autosomal recessive 5, 611091
    • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5

    Green NSUN2 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 5, 611091