Congenital muscular dystrophy and 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: TIA1 was added gene: TIA1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TIA1 were set to 23401021 Phenotypes for gene: TIA1 were set to Welander distal myopathy, OMIM:604454 Penetrance for gene: TIA1 were set to Complete