IllnessScoliosis, early onset; differential diagnosis

Summary

Short information

A comprehensive differential diagnostic panel for Scoliosis, early onset, containing 1 core candidate gene and altogether 12 genes according to the clinical symptoms

SP8256

Number of genes

5 Accredited laboratory test

Examined sequence length

8,7 kb (Core-/Core-canditate-Genes)
35,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FBN1	8616	134797	NM_000138.5	AD
NF1	8457	613113	NM_001042492.3	AD
RYR1	15117	180901	NM_000540.3	AD, AR
TGFBR1	1512	190181	NM_004612.4	AD
TGFBR2	1704	190182	NM_003242.6	AD

Informations about the disease

Synonyms

Allelic: Acromicric dysplasia (FBN1)
Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
Allelic: Ectopia lentis, familial (FBN1)
Allelic: Geleophysic dysplasia 2 (FBN1)
Allelic: King-Denborough syndrome (RYR1)
Allelic: Leukemia, juvenile myelomonocytic (NF1)
Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
Allelic: Marfan lipodystrophy syndrome (FBN1)
Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
Allelic: Neurofibromatosis-Noonan syndrome (NF1)
Allelic: Stiff skin syndrome (FBN1)
Allelic: Watson syndrome (NF1)
Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
Central core disease (RYR1)
Cowden syndrome 5 (PIK3CA)
Dystonia 6, torsion (THAP1)
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
Loeys-Dietz syndrome 1 (TGFBR1)
Loeys-Dietz syndrome 2 (TGFBR2)
MASS syndrome (FBN1)
Marfan syndrome (FBN1)
Minicore myopathy with external ophthalmoplegia (RYR1)
Neurofibromatosis, familial spinal (NF1)
Neurofibromatosis, type 1 (NF1)
Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
Osteogenesis imperfecta, type XXI (KADELR2)
Short stature, amelogenesis imperfecta + skeletal dysplasia with scoliosis (SLC10A7)
Spondylocostal dysostosis 5 (TBX6)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined