1. Genes and Genomic Entities
  2. RNU4-2

RNU4-2

RNA, U4 small nuclear 2
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green RNU4-2 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • ReNU syndrome, OMIM:620851
Tags
  • gene-checked
  • locus-type-rna-small-nuclear
Green RNU4-2 in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ReNU syndrome, OMIM:620851
Tags
  • locus-type-rna-small-nuclear
  • gene-checked
Green RNU4-2 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
    Tags
    • locus-type-rna-small-nuclear
    • gene-checked
    • de novo
    Green RNU4-2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • ReNU syndrome, OMIM:620851
    Tags
    • gene-checked
    • locus-type-rna-small-nuclear
    Green RNU4-2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • ReNU syndrome, OMIM:620851
    Tags
    • gene-checked
    • locus-type-rna-small-nuclear
    Amber RNU4-2 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • retinitis pigmentosa, MONDO:0019200
    Tags
    • locus-type-rna-small-nuclear
    • Q3_25_promote_green
    • gene-checked