POLR3GL

RNA polymerase III subunit G like
OMIM: 617457, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red POLR3GL in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
  • somatic
Red POLR3GL in Lipodystrophy - childhood onset


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • endosteal hyperostosis
  • oligodontia
  • growth retardation
  • facial dysmorphisms
  • lipodystrophy
Red POLR3GL in DDG2P


Version 3.88
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
    • Endosteal Hyperostosis and Oligodontia