Schwartz-jampel Syndrome, Type 1; Sjs1

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Schwartz-jampel Syndrome, Type 1; Sjs1 Is also known as sja syndrome, schwartz-jampel-aberfeld syndrome, sjs, myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities, schwartz-jampel syndrome, chondrodystrophic myotonia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Schwartz-jampel Syndrome, Type 1; Sjs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1 Specificity 15 % Genes 100 %
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2 Specificity 13 % Genes 100 %
HSPG2 - Dyssegmental dysplasia / Schwartz Jampel syndrome. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). HSPG2 Specificity 100 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Close Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Close Specificity 3 % Genes 100 %
HSPG2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HSPG2 Specificity 100 % Genes 100 %
Schwartz-Jampel Syndrome type 1 (sequence analysis of HSPG2 gene). By CGC Genetics (Portugal). HSPG2 Specificity 100 % Genes 100 %
Schwartz-Jampel syndrome types 1 and 2 (NGS panel of 2 genes). By CGC Genetics (Portugal). HSPG2, LIFR Specificity 50 % Genes 100 %

Sources and references

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OMIM Genetic Syndrome Finder

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