1. Genes and Genomic Entities
  2. PTCD1

PTCD1

pentatricopeptide repeat domain 1
OMIM: 614774, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PTCD1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    Red PTCD1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)