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 - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    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)