PanelApp (staging)
  1. Genes and Genomic Entities
  2. PTCD3

PTCD3

pentatricopeptide repeat domain 3
OMIM: 614918, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PTCD3 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Intellectual disability
  • optic atrophy
  • Leigh-like syndrome

Green PTCD3 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency-51, MIM#619057
    • Intellectual disability
    • optic atrophy
    • Leigh-like syndrome

    Green PTCD3 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency-51, MIM#619057
    • Mental retardation
    • optic atrophy
    • Leigh-like syndrome

    Green PTCD3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Combined oxidative phosphorylation deficiency-51, MIM#619057
    • Intellectual disability
    • optic atrophy
    • Leigh-like syndrome