PanelApp (stage)
  1. Genes and Genomic Entities
  2. PET117

PET117

PET117 homolog
OMIM: 614771, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PET117 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
  • Developmental delay
  • Regression
  • Complex IV deficiency

Red PET117 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 Red
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
    • Developmental delay