TXNL4A thioredoxin like 4A

Gene info

Disease info

Animal model

Variant info

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

1. Variant types are single nucleotide variant or Indel
2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Selected References

1. Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., Williams, S. G., Bhaskar, S. S., Urquhart, J. E., Anderson, B., O’Sullivan, J., Boute, O., Gundlach, J., … Strom, T. M. (2014). Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. The American Journal of Human Genetics, 95(6), 698–707. https://doi.org/10.1016/j.ajhg.2014.10.014 DOI:10.1016/j.ajhg.2014.10.014 PMID:25434003
2. Goos, J. A. C., Swagemakers, S. M. A., Twigg, S. R. F., van Dooren, M. F., Hoogeboom, A. J. M., Beetz, C., Günther, S., Magielsen, F. J., Ockeloen, C. W., A Ramos-Arroyo, M., Pfundt, R., Yntema, H. G., van der Spek, P. J., Stanier, P., Wieczorek, D., Wilkie, A. O. M., van den Ouweland, A. M. W., Mathijssen, I. M. J., & Hurst, J. A. (2017). Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. European Journal of Human Genetics, 25(10), 1126–1133. https://doi.org/10.1038/ejhg.2017.107 DOI:10.1038/ejhg.2017.107 PMID:28905882