PanelApp (stage)
  1. Genes and Genomic Entities
  2. RRM1

RRM1

ribonucleotide reductase catalytic subunit M1
OMIM: 180410, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RRM1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647

Amber RRM1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647