PanelApp
  1. Genes and Genomic Entities
  2. COX18

COX18

COX18, cytochrome c oxidase assembly factor
OMIM: 610428, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green COX18 in Mendeliome


Version 1.4541

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487
  • Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488

Green COX18 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.16

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487
    • Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488

    Green COX18 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487
    • Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488