TXNL4A thioredoxin like 4A

Gene info

Synonyms

U5-15kD, DIM1, HsT161, DIB1, SNRNP15

Previous symbol

TXNL4

External ID

HGNC: 30551
Entrez Gene: 10907
Ensembl: ENSG00000141759
UCSC: uc002lnp.4
OMIM: 611595
UniProtKB: P83876

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale

Extra Cardiac Phenotype

Dysmorphic facies, Neurodevelopmental delay, Hearing loss, Colobomas

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

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

No variant passing our criteria was found for TXNL4A.

Selected References

  1. 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
  2. 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