POLR3D

RNA polymerase III subunit D
OMIM: 187280, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red POLR3D in Mendeliome


Version 1.3470

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, POLR3D-related

Red POLR3D in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.388

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, POLR3D-related

Red POLR3D in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.333

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Leukodystrophy, MONDO:0019046, POLR3D-related