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Early-onset Dementia

Gene: TIA1

Amber List (moderate evidence)
TIA1 (TIA1 cytotoxic granule associated RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000116001
EnsemblGeneIds (GRCh37): ENSG00000116001
OMIM: 603518, Gene2Phenotype
TIA1 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Digenic variants in SQSTM1 and TIA1 have been reported in multisystem proteinopathy which includes clinical combinations of inclusion body myopathy (IBM), neurodegeneration [motor neuron disorder (MND)/frontotemporal dementia (FTD)], and Paget disease of bone (PDB). FTD has reported in at least one individual with FTD as a feature of the phenotype.
Sources: Literature
Created: 21 Aug 2023, 6:07 a.m.

Mode of inheritance
Other

Phenotypes
Multisystem proteinopathy

Publications

Created: 21 Aug 2023, 6:07 a.m.

Panel version: 0.220

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multisystem proteinopathy
OMIM
603518
Clinvar variants
Variants in TIA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tia1 has been classified as Amber List (Moderate Evidence).

21 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tia1 has been classified as Amber List (Moderate Evidence).

21 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TIA1 was added gene: TIA1 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: TIA1 was set to Other Publications for gene: TIA1 were set to 36861178; 29599744; 29457785 Phenotypes for gene: TIA1 were set to Multisystem proteinopathy Review for gene: TIA1 was set to AMBER