1. Genes and Genomic Entities
  2. PTCD3

PTCD3

pentatricopeptide repeat domain 3
OMIM: 614918, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PTCD3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
    • combined oxidative phosphorylation deficiency 51, MONDO:0033631
    Green PTCD3 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
    • combined oxidative phosphorylation deficiency 51, MONDO:0033631
    Green PTCD3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
    • combined oxidative phosphorylation deficiency 51, MONDO:0033631
    Green PTCD3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
    • combined oxidative phosphorylation deficiency 51, MONDO:0033631