TIA1

TIA1 cytotoxic granule associated RNA binding protein
OMIM: 603518, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TIA1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Other
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Multisystem proteinopathy

Amber TIA1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133

Amber TIA1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • distal myopathy, Welander type MONDO:0011466