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  2. Dilated Cardiomyopathy and conduction defects
  3. TXNRD2
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Dilated Cardiomyopathy and conduction defects

Gene: TXNRD2

Red List (low evidence)
TXNRD2 (thioredoxin reductase 2)
EnsemblGeneIds (GRCh38): ENSG00000184470
EnsemblGeneIds (GRCh37): ENSG00000184470
OMIM: 606448, Gene2Phenotype
TXNRD2 is in 2 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

?Glucocorticoid deficiency 5 OMIM#617825
Created: 25 Mar 2019, 4:30 p.m.
Sibbing Eur Heart J.2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. ?Mouse model and three DCM patients with missense variants. HGMD 3 variants assoc with DCM, including Sibbing and Dal Ferro. some freq in GnomAD for these variants.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
OMIM
606448
Clinvar variants
Variants in TXNRD2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TXNRD2. Mode of inheritance for gene TXNRD2 was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TXNRD2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list