Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

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 5 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Adult onset. No arthrogryposis
Created: 22 Dec 2016, 2:57 p.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, 604454
OMIM
603518
Clinvar variants
Variants in TIA1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TIA1 was created by ellenmcdonagh