PanelApp (test)
  1. Genes and Genomic Entities
  2. TOR1A

TOR1A

torsin family 1 member A
OMIM: 605204, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TOR1A in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita, MIM#618947

    Red TOR1A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Dystonia-1, torsion, MIM#128100

    Green TOR1A in Mendeliome


    Version 1.1902

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis multiplex congenita, MIM#618947
    • Dystonia-1, torsion, MIM#128100

    Green TOR1A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TOR1A in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Autosomal dominant or sporadic dystonia (DYT1)
    • Early-Onset Primary Dystonia
    • Dystonia-1, torsion, 128100

    Green TOR1A in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita 5, OMIM:618947
    • Arthrogryposis multiplex congenita 5, MONDO:0100218