MIPEP

mitochondrial intermediate peptidase
OMIM: 602241, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MIPEP in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, MIM# 617228

Green MIPEP in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, MIM# 617228

Green MIPEP in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, MIM# 617228
  • cardiomyopathy
  • left ventricular noncompaction
  • seizures
  • hypotonia
  • dev delay
  • cataracts