SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Gene info

Synonyms

hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786

Previous symbol

SNF2L4

External ID

HGNC: 11100
Entrez Gene: 6597
Ensembl: ENSG00000127616
UCSC: uc060tnr.1
OMIM: 603254
UniProtKB: P51532

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Persistent ductus arteriosus
  • Mitral atresia
  • Pulmonary atresia
  • Atrial septal defect
  • Single right ventricle

Extra Cardiac Phenotype

Short stature , Intrauterine growth retardation , Poor overall growth , Microcephaly , Coarse facies , Hearing impairment, Visual impairment , Thick eyebrows , Long eyelashes, Flat nasal bridge, Broad nose , Anteverted nostrils , Thick nasal alae , Large mouth , Thin upper vermilion , Thick lower vermilion , Macroglossia, Delayed dentition , Feeding problems , Delayed bone age , Scoliosis, Hypoplastic to absent terminal phalanges (especially fifth finger) , Hypoplastic to absent terminal phalanges (especially fifth toe) , Hypoplastic or absent nails , Hypertrichosis , Sparse scalp hair, Delayed psychomotor development , Mental retardation , Absence of speech , Hypotonia, Abnormal corpus callosum

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

Mouse homozygous for a point mutation has CHD, heterozygous null mouse has CHD

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 SMARCA4: BED file

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Selected References

  1. Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., … Linssen, M. M. L. (2013). Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. Human Mutation, 34(11), 1519–1528. DOI:10.1002/humu.22394 PMID:23929686
  2. Tzeng, M., du Souich, C., Cheung, H. W.-H., & Boerkoel, C. F. (2014). Coffin-Siris syndrome: Phenotypic evolution of a novelSMARCA4mutation. American Journal of Medical Genetics Part A, 164(7), 1808–1814. DOI:10.1002/ajmg.a.36533 PMID:24700502