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 - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    Amber PTCD3 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
    • combined oxidative phosphorylation deficiency 51, MONDO:0033631
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Green PTCD3 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    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