NSUN6

NOP2/Sun RNA methyltransferase family member 6
OMIM: 617199, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NSUN6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 82, OMIM:620779
Red NSUN6 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • NSUN6-related neurodevelopmental disorder
    Amber NSUN6 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.86
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 82, OMIM:620779
    • intellectual developmental disorder, autosomal recessive 82, MONDO:0968944
    Tags
    • Q4_26_promote_green