Congenital myopathy
Gene: TIA1EnsemblGeneIds (GRCh38): ENSG00000116001
EnsemblGeneIds (GRCh37): ENSG00000116001
OMIM: 603518, Gene2Phenotype
TIA1 is in 4 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Welander distal myopathy, 604454
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Adult onset phenotype (40-60yrs) in people of Finnish / Swedish ancestry. Not appropriate for congenital myopathy panel in terms of onset.Created: 3 Feb 2017, 2:03 p.m.
Adult onset phenotype (40-60yrs) in people of Finnish / Swedish ancestry. Not appropriate for congenital myopathy panel in terms of onset.Created: 31 Jan 2017, 3:21 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Welander distal myopathy 604454
Publications
- PMID 23401021
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Welander distal myopathy, OMIM:604454
- OMIM
- 603518
- Clinvar variants
- Variants in TIA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TIA1 were changed from Welander distal myopathy, 604454 to Welander distal myopathy, OMIM:604454
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for TIA1 were set to 23401021
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for TIA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
GEL ()TIA1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen