PTCD1

pentatricopeptide repeat domain 1
OMIM: 614774, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PTCD1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cardiomyopathy

Red PTCD1 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
    • Expert Review Red
    • NHS GMS
    • NHS GMS
    Phenotypes
    • Cardiomyopathy