SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Gene info

Synonyms

BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5

Previous symbol

SNF5L1

External ID

HGNC: 11103
Entrez Gene: 6598
Ensembl: ENSG00000099956
UCSC: uc002zyb.4
OMIM: 601607
UniProtKB: Q12824

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Atrial septal defect
  • Pulmonary stenosis
  • Dextrocardia

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 , 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 , Seizures , Small cerebellum, Abnormal corpus callosum

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

Homozygous inactivation of this gene leads to peri-implantation lethality

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 SMARCB1: BED file

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Selected References

  1. Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., … Altmüller, J. (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. DOI:10.1093/hmg/ddt366 PMID:23906836
  2. 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