TARDBP

TAR DNA binding protein
OMIM: 605078, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TARDBP in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069)

    Green TARDBP in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 10, with or without FTD
    • Frontotemporal lobar degeneration, TARDBP-related (MIM#612069
    • MONDO: 0012790)

    Green TARDBP in Incidentalome


    Version 0.301

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

    Red TARDBP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Amyotrophic lateral sclerosis type 10

    Green TARDBP in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Green
    • NSW Health Pathology

    Red TARDBP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Amyotrophic lateral sclerosis type 10