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Dilated Cardiomyopathy and conduction defects v1.55 | TXNRD2 | Rebecca Whittington commented on gene: TXNRD2: ?Glucocorticoid deficiency 5 OMIM#617825 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.54 | TXNRD2 | Rebecca Whittington commented on gene: TXNRD2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.53 | TXNRD2 | Rebecca Whittington reviewed gene: TXNRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.47 | TXNRD2 |
Ellen McDonagh Source South West GLH was added to TXNRD2. Mode of inheritance for gene TXNRD2 was changed from to BIALLELIC, autosomal or pseudoautosomal |