PET117

PET117 cytochrome c oxidase chaperone
OMIM: 614771, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PET117 in Mendeliome


Version 2.0

1 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 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
  • Developmental delay