RNU5B-1

RNA, U5B small nuclear 1
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RNU5B-1 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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
Tags
  • gene-checked
Green RNU5B-1 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
    • RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies
    Amber RNU5B-1 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, imprinted status unknown
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
    • RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179
    Tags
    • Q3_25_promote_green
    • locus-type-rna-small-nuclear
    • dd_review
    • gene-checked
    Amber RNU5B-1 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, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
    • RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179
    Tags
    • Q3_25_promote_green
    • locus-type-rna-small-nuclear
    • dd_review
    • gene-checked