PanelApp
  1. Genes and Genomic Entities
  2. TARS2

TARS2

threonyl-tRNA synthetase 2, mitochondrial (putative)
OMIM: 612805, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TARS2 in Mendeliome


Version 1.4541

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, MIM# 615918

Green TARS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.384

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21 - 615918
    • Epilepsy

    Green TARS2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 1.16

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, MIM# 615918

    Green TARS2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.699

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, MIM# 615918
    • Epilepsy
    • Developmental Delay

    Amber TARS2 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.204

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert List
    Phenotypes
    • Combined oxidative phosphorylation defect type 21, MONDO:0014398