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
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Pulmonic stenosis
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.
- 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
Download annotation file for SMC1A: BED file
Genome browser powered by igv.js
Selected References
- 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
- 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
- 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
- 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