RNU6ATAC

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red RNU6ATAC in Mendeliome


Version 1.4181

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related

Red RNU6ATAC in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.400

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related

Red RNU6ATAC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.361

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related

    Red RNU6ATAC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.628

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related