Congenital myopathy

Gene: TIA1

Red List (low evidence)

TIA1 (TIA1 cytotoxic granule associated RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000116001
EnsemblGeneIds (GRCh37): ENSG00000116001
OMIM: 603518, Gene2Phenotype
TIA1 is in 6 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Welander distal myopathy, 604454

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, 604454
OMIM
603518
Clinvar variants
Variants in TIA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

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.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for TIA1 were set to 23401021

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for TIA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TIA1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen