SMC3 structural maintenance of chromosomes 3

Gene info

Synonyms

HCAP, BAM, SMC3L1, bamacan

Previous symbol

CSPG6

External ID

HGNC: 2468
Entrez Gene: 9126
Ensembl: ENSG00000108055
UCSC: uc001kze.4
OMIM: 606062
UniProtKB: Q9UQE7

Disease info

CHD Phenotype

  • Persistent ductus arteriosus
  • Atrial septal defect
  • Pulmonary stenosis
  • Ventricular septal defect
  • Bicuspid aortic valve
  • Aortic stenosis
  • Tetralogy of fallot
  • Pulmonary artery dysplasia and hypoplasia

Extra Cardiac Phenotype

Microcephaly , Brachycephaly , Long/smooth philtrum, Micrognathia, Arched eyebrows, Thick eyebrows, Synophrys, Long eyelashes, Ptosis , Depressed nasal bridge, Anteverted nostrils , Bulbous nasal tip, Thin upper lip, Downturned corners of the mouth, High-arched palate, Dental anomalies, Short neck, Gastroesophageal reflux disease , Limited elbow movement , Small hands , Brachydactyly, Small feet , Cutis marmorata , Thick hair , Low anterior hairline, Hirsutism , Delayed psychomotor development , Cognitive impairment, Poor speech

Incomplete penetrance

No

Variable expressivity

Yes

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

Download annotation file for SMC3: BED file

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Selected References

  1. Chatfield, K. C., Schrier, S. A., Li, J., Clark, D., Kaur, M., Kline, A. D., … Krantz, I. D. (2012). Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis. American Journal of Medical Genetics Part A, 158A(10), 2499–2505. DOI:10.1002/ajmg.a.35582 PMID:22965847
  2. Gil-Rodríguez, M. C., Deardorff, M. A., Ansari, M., Tan, C. A., Parenti, I., Baquero-Montoya, C., … Teresa-Rodrigo, M. E. (2015). De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes. Human Mutation, 36(4), 454–462. DOI:10.1002/humu.22761 PMID:25655089