POLRMT

RNA polymerase mitochondrial
OMIM: 601778, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green POLRMT in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 55, MIM# 619743
  • intellectual disability
  • hypotonia

Green POLRMT in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 55, MIM# 619743
    • intellectual disability
    • hypotonia

    Green POLRMT in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 55, MIM# 619743
    • intellectual disability
    • hypotonia