1. Panels
  2. Cytopenias and congenital anaemias
  3. TXNIP
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: TXNIP

Red List (low evidence)
TXNIP (thioredoxin interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000265972
EnsemblGeneIds (GRCh37): ENSG00000117289
OMIM: 606599, Gene2Phenotype
TXNIP is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.
Created: 25 Jun 2015, 10:56 a.m.
Created: 25 Jun 2015, 10:56 a.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version Imported from "Early onset pancytopenia and red cell disorders" panel version 0

Details

Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
OMIM
606599
Clinvar variants
Variants in TXNIP
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

24 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TXNIP was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TXNIP was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN