SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

Gene info

Synonyms

BAF57

Previous symbol

None

External ID

HGNC: 11109
Entrez Gene: 6605
Ensembl: ENSG00000073584
UCSC: uc002hux.4
OMIM: 603111
UniProtKB: Q969G3

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Patent ductus arteriosus
  • Aortic stenosis
  • Tricuspid stenosis
  • Dextrocardia
  • Coronary artery anomaly

Extra Cardiac Phenotype

Short stature, Intrauterine growth retardation, Poor overall growth , Microcephaly , Cleft palate, Coarse facial features , Abnormal ears, Thick eyebrows, Long eyelashes, Broad nose , Flat nasal bridge, Thick anteverted alae nasi, Large mouth, Thin upper vermilion, Thick lower vermilion, Poor feeding , Scoliosis, Long, slender fingers , Hypoplasic 5th digit nails fingers/toes, Hypoplasia of the distal phalanges , Hypoplasia of the distal phalanges, Hypoplastic toenails , Dystrophic toenails , Low frontal hairline, Sparse scalp hair, Cryptorchidism, Delayed psychomotor development, Intellectual disability , Seizures, Cerebellar hypoplasia , Hypoplasia of the corpus callosum , Dandy-Walker malformation

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

MGI: Mice homozygous for a knock-out allele exhibit prenatal lethality

MGI ID

1927347

Variant info

Clinvar

SMARCE1

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 SMARCE1: BED file

Genome browser powered by igv.js

Selected References

  1. Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., … Wollnik, B. (2013). A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25), 5121–5135. https://doi.org/10.1093/hmg/ddt366 DOI:10.1093/hmg/ddt366 PMID:23906836
  2. Zarate, Y. A., Bhoj, E., Kaylor, J., Li, D., Tsurusaki, Y., Miyake, N., Matsumoto, N., Phadke, S., Escobar, L., Irani, A., Hakonarson, H., & Schrier Vergano, S. A. (2016). SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. American Journal of Medical Genetics Part A, 170(8), 1967–1973. Portico. https://doi.org/10.1002/ajmg.a.37722 DOI:10.1002/ajmg.a.37722 PMID:27264197
  3. Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., Kato, M., Hiraki, Y., Yamagata, T., Yano, S., Mizuno, S., Sakazume, S., Ishii, T., … Matsumoto, N. (2012). Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nature Genetics, 44(4), 376–378. https://doi.org/10.1038/ng.2219 DOI:10.1038/ng.2219 PMID:22426308