Wiedemann-steiner Syndrome; Wdsts

Description

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

Clinical Features

Top most frequent phenotypes and symptoms related to Wiedemann-steiner Syndrome; Wdsts

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Strabismus
And another 89 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Wiedemann-steiner Syndrome; Wdsts Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Coffin-Siris Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

BTD, HDAC8, RAD21, SMC3, SMC1A, NIPBL, TBC1D24, KMT2D, PIGV, ANKRD11, PHF6, ADNP, ARID1B, ARID2, SMARCE1, HELLS, SOX11, KMT2A, SMARCA4, SMARCB1 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
100 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
100 %
MLL sequencing.

By Genetic Services Laboratory University of Chicago in United States.

KMT2A
Specificity
100 %
Genes
50 %
MLL deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

KMT2A
Specificity
100 %
Genes
50 %
Wiedemann-Steiner syndrome (sequence analysis of KMT2A gene).

By CGC Genetics in Portugal.

KMT2A
Specificity
100 %
Genes
50 %
Acute myelogenous leukemia (detection of mutations PTD on KMT2A gene).

By CGC Genetics in Portugal.

KMT2A
Specificity
100 %
Genes
50 %
RT-PCR t(4;11)(KMT2A/AF4).

By CGC Genetics in Portugal.

KMT2A, AFF3
Specificity
50 %
Genes
50 %
RT-PCR t(9;11) (KMT2A/AF9).

By CGC Genetics in Portugal.

KMT2A, MLLT3
Specificity
50 %
Genes
50 %
RT-PCR t(11;19) (q23;p13.1) (KMT2A/ELL).

By CGC Genetics in Portugal.

KMT2A, EAF2
Specificity
50 %
Genes
50 %
RT-PCR t(11;19) (KMT2A/ENL).

By CGC Genetics in Portugal.

KMT2A, MLLT1
Specificity
50 %
Genes
50 %
Detection by FISH of KMT2A (11q23) rearrangements.

By CGC Genetics in Portugal.

KMT2A
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, KMT2A, AFF4
Specificity
25 %
Genes
100 %
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene.

By PreventionGenetics PreventionGenetics in United States.

KMT2A
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, PHF6, MED12, ARID1B, TAF1, NOTCH1, SMARCE1, SOX11, KMT2A, SMARCA4, SMARCB1, ARID1A, EP300 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Cornelia de Lange syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, KMT2A, AFF4
Specificity
25 %
Genes
100 %
Cornelia de Lange syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, KMT2A, AFF4
Specificity
25 %
Genes
100 %
Cornelia de Lange syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, KMT2A, AFF4
Specificity
25 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
KMT2A.

By MGZ Medical Genetics Center in Germany.

KMT2A
Specificity
100 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Wiedemann-Steiner syndrome.

By Centogene AG - the Rare Disease Company in Germany.

KMT2A
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
FISH, MDS Panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette in United States.

KMT2A, MECOM, EGR1, PTPRT, MYBL2
Specificity
20 %
Genes
50 %
Single gene testing KMT2A.

By CeGaT GmbH in Germany.

KMT2A
Specificity
100 %
Genes
50 %
KMT2A.

By Fulgent Genetics Fulgent Genetics in United States.

KMT2A
Specificity
100 %
Genes
50 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Focus::MDS™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, CEBPA, SETBP1, DNMT3A, EZH2, KDM6A, KMT2A, ASXL1, FLT3, JAK2, ZRSR2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Focus::AML™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, GATA1, DNMT3A, EZH2, KDM6A, KMT2A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Hematopoietic Disorders Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Wiedemann-Steiner Syndrome , Sequencing KMT2A Gene.

By Reference Laboratory Genetics in Spain.

KMT2A
Specificity
100 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RUNX1, TP53, IDH2, BRAF, PTPN11, ALK, CEBPA, MPL, NF1, NOTCH1, DNMT3A, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, PDGFRA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2, JAG1, RAF1, MECP2, FGFR3, BRAF, CDKL5, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

ADSL, HSD17B10, MECP2, ABAT, GAMT, GATM, ALG9, SLC9A6, SLC6A8, ARX, CDKL5, CHRNA7, PCDH19, PLP1, SMC1A, GPC3, DPYD, SLC35A2, FOLR1, GABRB2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
50 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
50 %
Cornelia de Lange Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Autsim Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
SMC1A sequencing.

By Genetic Services Laboratory University of Chicago in United States.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, TBC1D24, ANKRD11, PHF6, ADNP, ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A, SMARCA2, EP300, WNT5A, ESCO2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Cornelia de Lange Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
SMC1A deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

SMC1A
Specificity
100 %
Genes
50 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
X-linked Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, HSD17B10, OCRL, HPRT1, NHS, MECP2, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, SLC6A8, ARX, CDKL5, PCDH19, PLP1, SMC1A, L1CAM, DCX, PQBP1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, TBC1D24, ANKRD11, PHF6, ADNP, ARID1B, SMARCE1, SOX11, SMARCA4, SMARCB1, ARID1A, SMARCA2, EP300, AFF4, WNT5A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
SMC1A Gene Sequencing.

By GeneDx in United States.

SMC1A
Specificity
100 %
Genes
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
AutismNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, MECP2, SLC9A6, SLC6A8, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, RAI1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
CdLSNext.

By Ambry Genetics in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
SMC1A gene sequence and deletion/duplication.

By Ambry Genetics in United States.

SMC1A
Specificity
100 %
Genes
50 %
EpilepsyNext.

By Ambry Genetics in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, GRN, SLC9A6, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
50 %
SMC1A mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

SMC1A
Specificity
100 %
Genes
50 %
NIPBL, SMC1A, SMC3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SMC3, SMC1A, NIPBL
Specificity
34 %
Genes
50 %
SMC1A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SMC1A
Specificity
100 %
Genes
50 %
SMC1A-Related Cornelia de Lange Syndrome.

By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine. in Spain.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, ASXL1, ASXL3
Specificity
13 %
Genes
50 %
Cornelia de Lange Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, ASXL1, ASXL3
Specificity
13 %
Genes
50 %
Cornelia de Lange Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, ASXL1, ASXL3
Specificity
13 %
Genes
50 %
Cornelia de Lange syndrome 2 (sequence analysis of SMC1A gene).

By CGC Genetics in Portugal.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Cornelia de Lange syndrome 2 (deletion/duplication analysis on SMC1A gene).

By CGC Genetics in Portugal.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange syndrome 2 (deletion/duplication analysis on SMC1A gene).

By CGC Genetics in Portugal.

SMC1A
Specificity
100 %
Genes
50 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DHODH, FGFR3, CREBBP, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, FGFR1, POLR1C, TCOF1, POLR1D, TWIST1, EP300, EFTUD2, SRCAP, TCF12, SF3B4
Specificity
6 %
Genes
50 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
50 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Cornelia de Lange Syndrome via the SMC1A Gene.

By PreventionGenetics PreventionGenetics in United States.

SMC1A
Specificity
100 %
Genes
50 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
50 %
Cohesinopathies (Cornelia de Lange Syndrome).

By MGZ Medical Genetics Center in Germany.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Epileptic syndromes with epilepsy and intellectual disability panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UBE3A, HSD17B10, MECP2, STXBP1, SLC9A6, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PLP1, SYNGAP1, SMC1A, GPC3, GRIN2B, GRIN2A, MBD5, TBC1D24, DCX, PQBP1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Cornelia de Lange syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

SMC1A
Specificity
100 %
Genes
50 %
Single gene testing SMC1A.

By CeGaT GmbH in Germany.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Cornelia-de-Lange syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

SMC1A
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Cornelia-de-Lange syndrome 2.

By MedGene in Slovakia.

SMC1A
Specificity
100 %
Genes
50 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
50 %
Invitae Early Infantile Epileptic Encephalopathy Panel.

By Invitae in United States.

STXBP1, SLC25A22, ALDH7A1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SMC1A, SCN1A, GABRB3, SCN9A, SCN2A, SLC35A2, SLC6A1, FOLR1, GRIN2B, HCN1, KCNT1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Invitae Cornelia de Lange Syndrome Panel.

By Invitae in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Cornelia de Lange syndrome: SMC1A gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Cornelia de Lange Syndrome: SMC1A Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome: SMC1A Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMC1A
Specificity
100 %
Genes
50 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
50 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Cornelia de Lange Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Cornelia de Lange Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
Short Stature NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RAF1, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC1A, NIPBL, FGD1, EP300
Specificity
10 %
Genes
50 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Cornelia De Lange Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
SMC1A.

By Fulgent Genetics Fulgent Genetics in United States.

SMC1A
Specificity
100 %
Genes
50 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
50 %
Facial Dysostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

ALPL, DHODH, CREBBP, HDAC8, SMC3, SMC1A, NIPBL, HSPG2, POLR1C, TCOF1, POLR1D, EHMT1, UBE2A, TWIST1, ALX4, EP300, EFNB1, EFTUD2, EVC, EVC2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Cornelia de Lange Syndrome Panel.

By Blueprint Genetics in Finland.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Cornelia de Lange syndrome type 3.

By Bioarray in Spain.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
SMC1A Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SMC1A
Specificity
100 %
Genes
50 %
CORNELIA DE LANGE SYNDROME (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

HDAC8, SMC1A
Specificity
50 %
Genes
50 %
CORNELIA DE LANGE SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Cornelia de Lange Syndrome Type 2 , Sequencing SMC1A Gene.

By Reference Laboratory Genetics in Spain.

SMC1A
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome , Panel massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

HDAC8, RAD21, SMC3, SMC1A, NIPBL
Specificity
20 %
Genes
50 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %

Alternate names

Wiedemann-steiner Syndrome; Wdsts Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay;hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome.



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