1. Genes and Genomic Entities
  2. RNU6ATAC

RNU6ATAC

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber RNU6ATAC in Neonatal diabetes


Level 2: Endocrinology
Version 5.23
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
  • Q1_26_promote_green
Amber RNU6ATAC in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.99
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hypothyroidism, MONDO:0005420
  • Immune dysregulation, HP:0002958
  • thyroiditis, MONDO:0004126
  • alopecia, MONDO:0004907
Tags
  • locus-type-rna-small-nuclear
  • Q1_26_promote_green