SMC1A structural maintenance of chromosomes 1A

Gene info

Synonyms

DXS423E, KIAA0178, SB1.8, Smcb

Previous symbol

SMC1L1

External ID

HGNC: 11111
Entrez Gene: 8243
Ensembl: ENSG00000072501
UCSC: uc004dsg.4
OMIM: 300040
UniProtKB: Q14683

Disease info

CHD Phenotype

  • Atrial septal defect
  • Pulmonary stenosis
  • Ventricular septal defect

Extra Cardiac Phenotype

Pre- and postnatal growth retardation , Microcephaly, Brachycephaly , Bitemporal narrowing, Micrognathia , Long/ smooth philtrum, Arched eyebrows, Synophrys , Thick eyebrows, Long eyelashes, Ptosis , Downslanting palpebral fissures, High nasal bridge, Anteverted nares , Thin upper lip, Downturned corners of the mouth, High-arched palate , Short neck, Gastroesophageal reflux , Limited elbow movement , Small hands, Brachydactyly, Clinodactyly, Proximally placed thumbs, Small feet , Cutis marmorata , Hirsutism , Low anterior hairline, Delayed psychomotor development, Cognitive impairment, Poor speech, Seizures, Enlarged ventricles

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 SMC1A: 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. Hoppman-Chaney, N., Jang, J. S., Jen, J., Babovic-Vuksanovic, D., & Hodge, J. C. (2011). In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. American Journal of Medical Genetics Part A, 158A(1), 193–198. DOI:10.1002/ajmg.a.34360 PMID:22106055
  3. Hoppman-Chaney, N., Jang, J. S., Jen, J., Babovic-Vuksanovic, D., & Hodge, J. C. (2011). In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. American Journal of Medical Genetics Part A, 158A(1), 193–198. DOI:10.1002/ajmg.a.34360 PMID:22106055
  4. Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., … Devlin, A. M. (2017). Heterozygous truncation mutations of theSMC1Agene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia, 58(4), 565–575. DOI:10.1111/epi.13669 PMID:28166369