ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10

Gene info

Synonyms

ADAM-TS10

Previous symbol

None

External ID

HGNC: 13201
Entrez Gene: 81794
Ensembl: ENSG00000142303
UCSC: uc002mkj.3
OMIM: 608990
UniProtKB: Q9H324

Disease info

CHD Phenotype

  • Aortic stenosis
  • Pulmonary stenosis
  • Dysplastic valves
  • Mitral regurgitation
  • Ventricular septal defect

Extra Cardiac Phenotype

None

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 ADAMTS10.

Selected References

  1. Dagoneau, N., Benoist-Lasselin, C., Huber, C., Faivre, L., Mégarbané, A., Alswaid, A., … Cormier-Daire, V. (2004). ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome. The American Journal of Human Genetics, 75(5), 801–806. DOI:10.1086/425231 PMID:15368195