Genomics England
GMS Panels
Panels
Genes and Entities

TIA1

TIA1 cytotoxic granule associated RNA binding protein
OMIM: 603518
PanelMode of inheritanceDetails
1 panel
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Welander distal myopathy, 604454