TIA1

TIA1 cytotoxic granule associated RNA binding protein
OMIM: 603518, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TIA1 in Distal myopathies


Level 2: Neurology
Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Welander distal myopathy, OMIM:604454
    • distal myopathy, Welander type, MONDO:0011466
    Red TIA1 in Arthrogryposis


    Level 2: Neurology
    Version 10.5
    Latest signed off version: v10.0 (6 May 2026)

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Welander distal myopathy, 604454
    Red TIA1 in Congenital myopathy


    Level 2: Neurology
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Welander distal myopathy, OMIM:604454
    Red TIA1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review Not set
    Sources
    • NHS GMS
    • London North GLH