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 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Welander distal myopathy, OMIM:604454, distal myopathy, Welander type, MONDO:0011466