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  3. TIA1
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Vast majority of families have had the same founder variant, one other variant reported.
Created: 15 Jun 2020, 9:52 a.m. | Last Modified: 15 Jun 2020, 9:52 a.m.
Panel Version: 0.65
Created: 15 Jun 2020, 9:52 a.m.
Last Modified: 15 Jun 2020, 9:52 a.m.
Panel version: Imported from Myopathy - adult onset panel version 0.65

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Minimal reports to date.

PMID: 23401021: Single variant reported in individuals of Finnish and Swedish ancestry. Late onset myopathy. Variant present in gnomad (9 hets, 0 hom)

PMID: 29599744: 3 families reported with variants in 2 genes (TIA1 and SQSTM1) thought to be causative of disease
Created: 15 Jun 2020, 2:04 a.m. | Last Modified: 15 Jun 2020, 2:04 a.m.
Panel Version: 0.63

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Welander distal myopathy (MIM#604454)

Publications

Created: 15 Jun 2020, 2:04 a.m.
Last Modified: 15 Jun 2020, 2:04 a.m.
Panel version: Imported from Myopathy - adult onset panel version 0.63

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal myopathy, Welander type MONDO:0011466
OMIM
603518
Clinvar variants
Variants in TIA1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Apr 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).

17 Apr 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TIA1 were set to 23401021; 23401021

17 Apr 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).

14 Apr 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TIA1 was added gene: TIA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TIA1 were set to 23401021; 23401021 Phenotypes for gene: TIA1 were set to distal myopathy, Welander type MONDO:0011466 Mode of pathogenicity for gene: TIA1 was set to Other