TXNL4A thioredoxin like 4A
U5-15kD, DIM1, HsT161, DIB1, SNRNP15
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
- Patent foramen ovale
Extra Cardiac Phenotype
Dysmorphic facies, Neurodevelopmental delay, Hearing loss, Colobomas
MGI: no cardiovascular defect recorded
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
No variant passing our criteria was found for TXNL4A.
- Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., … 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. DOI:10.1016/j.ajhg.2014.10.014 PMID:25434003
- Goos, J. A. C., Swagemakers, S. M. A., Twigg, S. R. F., van Dooren, M. F., Hoogeboom, A. J. M., Beetz, C., … 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. DOI:10.1038/ejhg.2017.107 PMID:28905882