1. Genes and Genomic Entities
  2. NSUN2

NSUN2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red NSUN2 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 5, OMIM:611091
  • cataracts
Red NSUN2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 5, OMIM:611091
  • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Green NSUN2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091
    Green NSUN2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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