TIA1

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

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 1.29 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	Other	Sources Expert Review Amber Literature Phenotypes Multisystem proteinopathy
Amber TIA1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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 1.2302	1 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 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal myopathy, Welander type MONDO:0011466