1. Genes and Genomic Entities
  2. RNU4-2

RNU4-2

RNA, U4 small nuclear 2
Gene2Phenotype

7 panels

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


Level 2: Neurology
Version 8.51
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
  • locus-type-rna-small-nuclear
Amber RNU4-2 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.51
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • locus-type-rna-small-nuclear
  • Q2_26_promote_green
Green RNU4-2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.192
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
Green RNU4-2 in DDG2P


Version 6.447
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
    • de novo
    Green RNU4-2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.192
    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
    • locus-type-rna-small-nuclear
    • Q2_26_MOI
    • Q2_26_NHS_review
    Green RNU4-2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.397
    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
    • locus-type-rna-small-nuclear
    • Q2_26_MOI
    • Q2_26_NHS_review
    Green RNU4-2 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.124
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Retinitis pigmentosa 102, OMIM:621560
    Tags
    • locus-type-rna-small-nuclear
    • gene-checked