CHST14 carbohydrate sulfotransferase 14

Gene info

Synonyms

HD4ST, D4ST-1

Previous symbol

D4ST1

External ID

HGNC: 24464
Entrez Gene: 113189
Ensembl: ENSG00000169105
UCSC: uc001zlw.4
OMIM: 608429
UniProtKB: Q8NCH0

Disease info

CHD Phenotype

  • Atrial septal defect
  • Coarctation of the aorta

Extra Cardiac Phenotype

Dysmorphic facies, Neurodevelopmental delay, ocular refractive dysfunction, Renal deformities, digit and limb deformities, Hyperflexibility, joint dyslocation, Connective tissue dysfunction

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: decreased heart weight

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

Download annotation file for CHST14: BED file

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Selected References

  1. Dündar, M., Müller, T., Zhang, Q., Pan, J., Steinmann, B., Vodopiutz, J., … Janecke, A. R. (2009). Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome. The American Journal of Human Genetics, 85(6), 873–882. DOI:10.1016/j.ajhg.2009.11.010 PMID:20004762
  2. Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., … Matsumoto, N. (2010). A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. American Journal of Medical Genetics Part A, n/a–n/a. DOI:10.1002/ajmg.a.33498 PMID:20503305
  3. Winters, K. A., Jiang, Z., Xu, W., Li, S., Ammous, Z., Jayakar, P., & Wierenga, K. J. (2012). Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. American Journal of Medical Genetics Part A, 158A(11), 2935–2940. DOI:10.1002/ajmg.a.35613 PMID:22987394