RNU6ATAC

RNA, U6atac small nuclear (U12-dependent splicing)
OMIM: 601429, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber RNU6ATAC in Neonatal diabetes


Level 2: Endocrinology
Version 5.17
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neonatal diabetes mellitus, MONDO:0016391
  • hypothyroidism
  • humoral immunue defect
  • hepatic disorder
  • growth failure
  • failure to thrive
  • skeletal abnormalities
  • atopic dermatitis
  • vitiligo
  • alopecia
Tags
  • locus-type-rna-small-nuclear