Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg
Description
Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).
Genes related to Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg
- TAPT1
Clinical Features
Top most frequent phenotypes and symptoms related to Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg
- Microcephaly
- Hypertelorism
- Growth delay
- Micrognathia
- Cleft palate
- Myopathy
- Flexion contracture
- Low-set ears
- Intrauterine growth retardation
- Wide nasal bridge
Incidence and onset information
— Not enough data available about incidence and published cases.
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Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.
By Collagen Diagnostic Laboratory University of Washington in United States.
ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)
View the complete list with 10 more genes
Specificity
4 %
Genes
100 % |
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Osteogenesis imperfecta Deletion / Duplication panel - Recessive.
By Connective Tissue Gene Tests in United States.
ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 % |
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Osteogenesis imperfecta NGS panel - Recessive.
By Connective Tissue Gene Tests in United States.
ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 % |
Osteogenesis imperfecta Comprehensive panel - Recessive.
By Connective Tissue Gene Tests in United States.
ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 % |
Osteogenesis imperfecta NGS panel - Dominant & Recessive.
By Connective Tissue Gene Tests in United States.
ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
OI panel 2.
By Connective Tissue Laboratory Ghent University Hospital in Belgium.
FKBP10, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, B3GALT6
Specificity
6 %
Genes
100 % |
NGS panel - Osteogenesis Imperfecta and related disorders.
By Genome Diagnostics VU University Medical Center in Netherlands.
ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
6 %
Genes
100 % |
Alternate names
Osteochondrodysplasia, Complex Lethal, Symoens-barnes-gistelinck Type; Oclsbg Is also known as ;complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type.
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