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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessNicolaides-Baraitser syndrome + Coffin-Siris syndrome; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Nicolaides-Baraitser syndrome + Coffin-Siris syndrome containing 6 core or core candidate genes and altogether 19 curated genes according to the clinical signs

ID
NP0019
Number of genes
13 Accredited laboratory test
Examined sequence length
25,9 kb (Core-/Core-canditate-Genes)
45,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ARID1A6858NM_006015.6AD
ARID1B6750NM_001374820.1AD
SMARCA24773NM_003070.5AD
SMARCA45040NM_001128849.3AD
SMARCB11158NM_003073.5AD
SMARCE11236NM_003079.5AD
ARID25508NM_152641.4AD
BICRA4683NM_015711.3AD
DPF21175NM_006268.5AD
SMARCC23459NM_003075.5AD
SMARCD11642NM_003076.5AD
SOX111326NM_003108.4AD
SOX41425NM_003107.3AD

Informations about the disease

Clinical Comment

Group of disorders

ORPHA:3051 Nicolaidis-Baraitser syndrome, intellectual disability-sparse hair-brachydactyly syndrome; short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy, severe mental delay

ORPHA:1465 Coffin-Siris syndrome; intellectual disability with aplasia/hypoplasia of distal phalanx /nail of 5th digit, developmental delay, coarse facial features, other variable clinical manifestations

 

Synonyms
  • DD: Cornelia-de Lange syndrome
  • Alias: Nicolaides-Baraitser / Coffin-Siris + Cornelia de Lange syndrome
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Allelic: Rhabdoid tumors, somatic (SMARCB1)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Biotinidase deficiency (BTD)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 10 (SOX4)
  • Coffin-Siris syndrome 11 (SMARCD1)
  • Coffin-Siris syndrome 12 (BICRA)
  • Coffin-Siris syndrome 2 (ARID1A)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Coffin-Siris syndrome 5 (SMARCE1)
  • Coffin-Siris syndrome 6 (ARID2)
  • Coffin-Siris syndrome 7 (DPF2)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Coffin-Siris syndrome 9 (SOX11)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Mungan syndrome (RAD21)
  • Nicolaides-Baraitser syndrome (SMARCA2)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined