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
Disease
CHD Phenotype
- Ventricular septal defect
- Aortic stenosis
- Pulmonic stenosis
- Dysplastic valves
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.
- 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 ADAMTS10.
Selected References
- 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