Weill-marchesani Syndrome 3; Wms3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.

Genes related to Weill-marchesani Syndrome 3; Wms3

LTBP2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Weill-marchesani Syndrome 3; Wms3

Short stature
Brachydactyly
Myopia
Joint stiffness
Pulmonic stenosis
Aortic valve stenosis
Ectopia lentis
Increased intraocular pressure
Shallow anterior chamber
Microspherophakia

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.

Weill-marchesani Syndrome 3; Wms3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...) View the complete list with 14 more genes Panel complete gene list SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, NDUFS1, NR2F1, OPA1, OPA3, PAX6, AUH, PITX2, PITX3, POLG Specificity 3 % Genes 100 %
LTBP2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LTBP2 Specificity 100 % Genes 100 %
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). OPTN, CYP1B1, LTBP2, MYOC Specificity 25 % Genes 100 %
Primary Congenital Glaucoma (sequence analysis of LTBP2 gene). By CGC Genetics (Portugal). LTBP2 Specificity 100 % Genes 100 %
Primary Congenital Glaucoma via LTBP2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). LTBP2 Specificity 100 % Genes 100 %
Glaucoma Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC4A4, ATOH7, OPTN, MFRP, COL4A1, COL8A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, LMX1B, LTBP2, MYOC, OPTC, PAX6, PITX2 Specificity 6 % Genes 100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...) View the complete list with 143 more genes Panel complete gene list RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3, TGFBR2, KLF10, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, ZIC3, ACTA1, ZBTB17, ACTA2, MYOZ2, SLC2A10, ABCG5, ABCG8, CACNA1C, CACNA2D1, PRDM16, CACNB2, LMF1, JPH2, ACTC1, CALM1, CRELD1, CASQ2, CAV3, CBL, SHOC2, CBS, LDB3, ANKRD1, SALL4, ZHX3, SELENON, TRIM63, MYLK2, ACTN2, HCN4, APOA5, RANGRF, TRPM4, FKRP, LDLRAP1, CETP, CREB3L3, CALR3, SCN3B, PDLIM3, MIB1, COL3A1, COL5A2, COX15, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, GPIHBP1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DPP6, HSPB8, DSC2, DSG2, DSP, DNAJC19, DTNA, EFEMP2, ELN, EMD, CAVIN4, EYA4, FBN1, FBN2, FKTN, FHL1, FHL2, AKAP9, GAA, GCKR, GJA5, ALMS1, GLA, HADHA, HFE, ANK2, HRAS, ABCC9, APOA4, ILK, APOC2, APOE, JAG1, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDLR, LMNA, LTBP2, SMAD3, SMAD4, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYO6, NODAL, NOTCH1, NPPA, NRAS, PKP2, PLN, PRKAG2, PRKAR1A, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Weill-Marchesani syndrome NGS panel. By Connective Tissue Gene Tests (United States). ADAMTS10, ADAMTS17, FBN1, LTBP2 Specificity 25 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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