RNU6ATAC

RNA, U6atac small nuclear (U12-dependent splicing)
OMIM: 601429, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RNU6ATAC in Mendeliome


Version 1.4804

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, RNU6ATAC-related
Tags
  • non-coding gene

Green RNU6ATAC in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.428

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, RNU6ATAC-related
Tags
  • non-coding gene

Green RNU6ATAC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.412

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RNU6ATAC-related
    Tags
    • non-coding gene

    Green RNU6ATAC in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.43

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Syndromic disease, MONDO:0002254, RNU6ATAC-related
    Tags
    • non-coding gene

    Green RNU6ATAC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.760

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RNU6ATAC-related
    • neonatal diabetes
    Tags
    • non-coding gene

    Green RNU6ATAC in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.224

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RNU6ATAC-related
    • neonatal diabetes
    Tags
    • non-coding gene