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 6.18
Latest signed off version: v6.4 (30 Apr 2025)

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 9.31
    Latest signed off version: v9.0 (30 Apr 2025)

    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 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    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 8.20
    Latest signed off version: v8.0 (30 Apr 2025)

    review Not set
    Sources
    • NHS GMS
    • London North GLH