Skeletal diseases and unclear skeletal phenotypes

*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.

Osteogenesis imperfecta

Small panel (#229): autosomal-recessive osteogenesis imperfecta, all known genes (as of 06/2018)

BMP1, CREB3L1, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1 
(15 genes, 23,9 kb)


Large panel (#328): autosomal-recessive osteogenesis imperfecta, all known genes (as of 05/2019)

BMP1, CREB3L1, CRTAP, FKBP10, NBAS, NUDT6, P3H1, PLOD2, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1 
(17 genes, 32,0 kb)


Small panel (#059): autosomal-dominant osteogenesis imperfecta, all genes

1.COL1A1*, 2. COL1A2*, IFITM5 
(3 genes, 8,9 kb)


Small panel (#060): prenatal suspicion of osteogenesis imperfecta, most common dominant and recessive genes

1.COL1A1*, COL1A2*, IFITM5, 2. ALPL, BMP1, CRTAP, FKBP10, P3H1, PPIB, SERPINF1, SERPINH1, SPARC, TMEM38B, WNT1 
(14 genes, 24,85 kb)


Large panel (#061): Suspected osteogenesis imperfecta, most common genes, unclear mode of inheritance (dominant due to new mutation or recessive and X-linked both possible)

1.COL1A1*, COL1A2*, IFITM5, 2. BMP1, CRTAP, FKBP10, P3H1, PLS3, PPIB, SERPINF1, SERPINH1, SPARC, TMEM38B, WNT1 
(14 genes, 24,85 kb)


Small panel (#093): Suspected osteogenesis imperfecta, with severe form of progression, most common genes

1.COL1A1*, COL1A2*, IFITM5, 2. BMP1, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, TMEM38B, WNT1 
(13 genes, 24,6 kb)


Small panel (#094): Suspected osteogenesis imperfecta, with moderate form of progression, most common genes

1.COL1A1*, COL1A2*, IFITM5, 2. ALPL, LRP5, PLS3, SEC24D, SP7, SPARC, WNT1 
(10 genes, 23,6 kb)


Single gene diagnostics:

BMP1, COL1A1*, COL1A2*, CRTAP, FKBP10, IFITM5, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
 

Osteogenesis imperfecta with additional clinical symptoms

Small panel (#062): Cole-Carpenter syndrome

P3H1, P4HB, SEC24D
(3 genes, 6,8 kb)


Single gene diagnostics:

P3H1, P4HB, SEC24D

Early-onset osteoporosis

Small panel (#063): juvenile or early-onset osteoporosis, most common genes, dominant or X-linked inheritance

BMP1, COL1A1, *COL1A2, IFITM5, LRP5, PLS3, WNT1
(7 genes, 19,7 kb)


Single gene diagnostics:

BMP1, *COL1A1, *COL1A2, IFITM5, LRP5, PLS3, WNT1

Full panel osteogenesis imperfecta and osteoporosis

Full panel (#330): Osteogenesis imperfecta and osteoporosis, all genes in the panel with OI or OI-like phenotype

ALPL, ANO5, BMP1, COL1A1*, COL1A2*, COPB2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, NBAS, NUDT6, MBTPS2, MMP2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1 
(28 genes, 59,81 kb)

Adams-Oliver syndrome

Small panel (#230): Adams-Oliver syndrome

ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ 
(6 genes, 23,04 kb)

Mucopolysaccharidoses

Small panel (#231): Mucopolysaccharidoses

ARSB, GALNS, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH 
(10 genes, 17,73 kb)

Fanconi anaemia

Large panel (#232): Fanconi anaemia

BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, MAD2L2, PALB2, FANCL, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2 
(20 genes, 55,13 kb)

Short rib-polydactyly syndrome

Large panel (#233): Short rib-polydactyly syndrome

CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60 
(18 genes, 63,28 kb)

Van Maldergem syndrome

Large panel (#234): Van Maldergem syndrome

DCHS1, FAT4 
(2 genes, 24,84 kb)

Cornelia de Lange

Small panel (#235): Cornelia de Lange syndrome

HDAC8, NIPBL, SMC1A, SMC3, RAD21 
(5 genes, 18,80 kb)

Peroxisome biogenesis complex

Small panel (#236): Peroxisome biogenesis complex

PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7 
(14 genes, 19,80 kb)


Full panel skeletal diseases and unclear skeletal phenotypes (#183): all genes in the panel

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

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Skeletal diseases and unclear skeletal phenotypes
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