TRAPPC2L

trafficking protein particle complex 2 like
OMIM: 610970, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TRAPPC2L in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
Tags
  • founder

Red TRAPPC2L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
    Tags
    • founder

    Amber TRAPPC2L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
    Tags
    • founder

    Red TRAPPC2L in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
    Tags
    • founder