Dilated Cardiomyopathy and conduction defectsGene: TXNRD2
?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
Source South West GLH was added to TXNRD2. Mode of inheritance for gene TXNRD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
TXNRD2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list