RNU6ATAC

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RNU6ATAC in Mendeliome


Version 1.4516

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related
  • neonatal diabetes
Tags
  • non-coding gene

Amber RNU6ATAC in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.418

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related
  • neonatal diabetes
Tags
  • non-coding gene

Amber RNU6ATAC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.383

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related
    • neonatal diabetes
    Tags
    • non-coding gene

    Amber RNU6ATAC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.691

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related
    • neonatal diabetes
    Tags
    • non-coding gene

    Amber RNU6ATAC in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.204

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related
    • neonatal diabetes
    Tags
    • non-coding gene