Congenital myopathy
Gene: TIA1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Welander distal myopathy, 604454
Publications
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
Phenotypes for gene: TIA1 were changed from Welander distal myopathy, 604454 to Welander distal myopathy, OMIM:604454
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.
This gene has been classified as Red List (Low Evidence).
Publications for TIA1 were set to 23401021
Mode of inheritance for TIA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
TIA1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen