POLR3K

RNA polymerase III subunit K
OMIM: 606007, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green POLR3K in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POLR3-related leukodystrophy MONDO:0700282
Tags
  • founder

Green POLR3K in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.573

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

Green POLR3K in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • POLR3-related leukodystrophy MONDO:0700282

Green POLR3K in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.318

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • POLR3-related leukodystrophy MONDO:0700282
    Tags
    • founder