TIA1

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

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber TIA1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	Other	Sources Expert Review Amber Literature Phenotypes Multisystem proteinopathy
Amber TIA1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133
Amber TIA1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133 Welander distal myopathy (MIM#604454)
Amber TIA1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal myopathy, Welander type MONDO:0011466