PanelApp (staging)
  1. Genes and Genomic Entities
  2. MIEF2

MIEF2

mitochondrial elongation factor 2
OMIM: 615498, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red MIEF2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 49, MIM# 619024
  • Progressive muscle weakness
  • Exercise intolerance
  • Ragged red and COX negative fibres
  • Complex I and IV deficiency

Red MIEF2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 49, MIM# 619024
    • Progressive muscle weakness
    • Exercise intolerance
    • Ragged red and COX negative fibres
    • Complex I and IV deficiency