RNU12

RNA, U12 small nuclear
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RNU12 in Rare genetic inflammatory skin disorders


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • porokeratosis
  • erythematous cutaneous eruption
Tags
  • currently-ngs-unreportable
  • gene-checked
Amber RNU12 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.177
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CDAGS syndrome, OMIM:603116
  • craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:001128
Tags
  • currently-ngs-unreportable
  • gene-checked
Red RNU12 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • RNU12-related CDAGS syndrome