TXNRD2

thioredoxin reductase 2
OMIM: 606448, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber TXNRD2 in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 5.4
Latest signed off version: v5.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Glucocorticoid deficiency 5 , OMIM:617825
  • glucocorticoid deficiency 5, MONDO:0040502
Tags
  • Q2_26_promote_green
Red TXNRD2 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.97

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list