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)
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
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ARID1A | 6858 | NM_006015.6 | AD | |
ARID1B | 6750 | NM_001374820.1 | AD | |
SMARCA2 | 4773 | NM_003070.5 | AD | |
SMARCA4 | 5040 | NM_001128849.3 | AD | |
SMARCB1 | 1158 | NM_003073.5 | AD | |
SMARCE1 | 1236 | NM_003079.5 | AD | |
ARID2 | 5508 | NM_152641.4 | AD | |
BICRA | 4683 | NM_015711.3 | AD | |
DPF2 | 1175 | NM_006268.5 | AD | |
SMARCC2 | 3459 | NM_003075.5 | AD | |
SMARCD1 | 1642 | NM_003076.5 | AD | |
SOX11 | 1326 | NM_003108.4 | AD | |
SOX4 | 1425 | NM_003107.3 | AD |
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