1. Genes and Genomic Entities
  2. U2AF2

U2AF2

U2 small nuclear RNA auxiliary factor 2
OMIM: 191318, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green U2AF2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • U2AF2-related developmental disorder (monoallelic)
    Amber U2AF2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • Q3_23_promote_green
    Amber U2AF2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • Q3_23_promote_green
    • Q3_23_NHS_review