POLR3K

RNA polymerase III subunit K
OMIM: 606007, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber POLR3K in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Hypomyelinating leukodystrophy-21, MIM#619310
Tags
  • founder

Amber POLR3K in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Hypomyelinating leukodystrophy-21, MIM#619310
Tags
  • founder

Amber POLR3K in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.308

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Hypomyelinating leukodystrophy-21, MIM#619310
    Tags
    • founder