Short Stature With Nonspecific Skeletal Abnormalities; Snsk
Genes related to Short Stature With Nonspecific Skeletal Abnormalities; Snsk
- NPR2
Clinical Features
Phenotypes and symptoms related to Short Stature With Nonspecific Skeletal Abnormalities; Snsk
- Short stature
- Delayed skeletal maturation
- Hypothyroidism
- Proportionate short stature
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.
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.Short Stature With Nonspecific Skeletal Abnormalities; Snsk Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Acromesomelic dysplasia, Maroteaux type (sequence analysis of NPR2 gene).
By CGC Genetics (Portugal).
NPR2
Specificity
100 %
Genes
100 % |
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)
View the complete list with 33 more genes
Specificity
2 %
Genes
100 % |
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.
By Connective Tissue Gene Tests (United States).
RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)
View the complete list with 33 more genes
Specificity
2 %
Genes
100 % |
Spondylo-Epi-Metaphyseal dysplasias NGS panel.
By Connective Tissue Gene Tests (United States).
RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)
View the complete list with 33 more genes
Specificity
2 %
Genes
100 % |
Acromesomelic Dysplasia, Maroteaux Type.
By Bioscientia GmbH Center for Human Genetics (Germany).
NPR2
Specificity
100 %
Genes
100 % |
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.
By CeGaT GmbH (Germany).
ROR2, TRPS1, WNT5A, IFT122, ADAMTSL2, DDR2, IFT140, WDR35, ZSWIM6, IFT43, FBN1, FGFR3, GDF5, GPC6, GSC, IHH, NPR2, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 % |
Invitae Overgrowth and Macrocephaly Syndromes Panel.
By Invitae (United States).
MED12, NSD1, CDKN1C, PHF6, SETD2, SPRED1, CUL4B, DIS3L2, DNMT3A, EZH2, AKT2, AKT3, GLI3, GPC3, KPTN, NF1, NFIX, NPR2, PIK3R2, PTEN
Specificity
5 %
Genes
100 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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