Distal myopathies
Gene: TIA1EnsemblGeneIds (GRCh38): ENSG00000116001
EnsemblGeneIds (GRCh37): ENSG00000116001
OMIM: 603518, Gene2Phenotype
TIA1 is in 4 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed on 23rd October 2025Created: 23 Oct 2025, 12:49 a.m. | Last Modified: 23 Oct 2025, 12:49 a.m.
Panel Version: 6.11
Comment on mode of inheritance: Suggested to change the mode of inheritance to monoallelic only following GMS review.Created: 23 Oct 2025, 12:47 a.m. | Last Modified: 23 Oct 2025, 12:47 a.m.
Panel Version: 6.9
2 reports of apparent homozygosity in PMID: 13469174 (Welander 1957) and PMID: 10482271 (Ahlberg et al. 1999). In both cases both parents were affected by Welander distal myopathy. Probands and parents were not sequenced. As both cases are likely to be from the Swedish populations, where a common founder variant was later identified, E384K (PMID: 23401021, Hackman 2013) it is possible that these are true homozygous cases.
However, no further homozygous cases have been reported in the literature, these two cases were not confirmed and two cases doesn't not meet our threshold for including this mode of inheritance for a green rated gene, the mode of inheritance should be changed to monallelic only.Created: 23 Oct 2025, 12:46 a.m. | Last Modified: 23 Oct 2025, 12:46 a.m.
Panel Version: 6.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cassandra Smith (Genomics England)
Do not see any evidence in the literature of a biallelic mode of inheritance for variants in this gene associated with distal myopathy
Nearly all reports are for the common E384K variant in a heterozygous state.Created: 24 Mar 2025, 11:54 a.m. | Last Modified: 24 Mar 2025, 11:54 a.m.
Panel Version: 6.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arianna Tucci (Genomics England Curator)
Common in Finnish and Swedish patients (one common mutation E384K)Created: 31 Jan 2017, 4:55 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Welander distal myopathy, 604454
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Welander distal myopathy, OMIM:604454
- distal myopathy, Welander type, MONDO:0011466
- Tags
- OMIM
- 603518
- Clinvar variants
- Variants in TIA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TIA1 were changed from Welander distal myopathy, 604454 to Welander distal myopathy, OMIM:604454; distal myopathy, Welander type, MONDO:0011466
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: TIA1 were set to 23401021
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: TIA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_25_MOI tag was added to gene: TIA1.
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for TIA1 were set to 23401021
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for TIA1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TIA1 was added to Distal myopathiespanel. Sources: Radboud University Medical Center, Nijmegen