Rubinstein-taybi Syndrome 2; Rsts2

Description

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Rubinstein-taybi Syndrome 2; Rsts2

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Microcephaly
  • Scoliosis
  • Micrognathia
  • Failure to thrive
  • Abnormal facial shape
  • Cryptorchidism
And another 36 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.


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Rubinstein-taybi Syndrome 2; Rsts2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Rubinstein-Taybi Syndrome - EP300 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi Syndrome - EP300 Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

EP300
Specificity
100 %
Genes
100 %
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
100 %
EP300 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

EP300
Specificity
100 %
Genes
100 %
EP300 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

EP300
Specificity
100 %
Genes
100 %
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
100 %
EP300. Complete sequencing.

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

EP300
Specificity
100 %
Genes
100 %
Rubinstein Taybi Del/Dup Panel.

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

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein Taybi Seq + Del/Dup Panel.

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

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein Taybi Seq Analysis.

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

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein-Taybi Syndrome (deletion/duplication analysis of EP300 gene).

By CGC Genetics in Portugal.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi syndrome (sequence analysis of EP300 gene).

By CGC Genetics in Portugal.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi syndrome (sequence analysis of CREBBP and EP300 genes).

By CGC Genetics in Portugal.

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

CREBBP, EP300, SRCAP
Specificity
34 %
Genes
100 %
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
100 %
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
100 %
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
4 %
Genes
100 %
Rubinstein-Taybi Syndrome via the EP300 Gene.

By PreventionGenetics PreventionGenetics in United States.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein-Taybi syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein-Taybi syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

CREBBP, EP300
Specificity
50 %
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 %
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 %
Rubinstein-Taybi syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EP300
Specificity
100 %
Genes
100 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

EP300
Specificity
100 %
Genes
100 %
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 %
Single gene testing EP300.

By CeGaT GmbH in Germany.

EP300
Specificity
100 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Rubinstein-Taybi syndrome 2 (EP300) MLPA.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi syndrome 2 (EP300) MLPA.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi syndrome 2 (EP300).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EP300
Specificity
100 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Rubinstein-Taybi Syndrome panel.

By Molecular Vision Laboratory in United States.

CREBBP, EP300, SRCAP
Specificity
34 %
Genes
100 %
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
100 %
Invitae Rubinstein-Taybi Syndrome Panel.

By Invitae in United States.

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein-Taybi Syndrome: EP300 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

EP300
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
Rubenstein-Taybi Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CREBBP, EP300
Specificity
50 %
Genes
100 %
EP300.

By Fulgent Genetics Fulgent Genetics in United States.

EP300
Specificity
100 %
Genes
100 %
Hemato-oncology chromosomal microarray.

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

BRCA1, BRCA2, APC, MSH2, MLH1, TP53, COL1A1, RB1, BLM, BRAF, HRAS, ALK, PTCH1, PHOX2B, SUFU, CDH1, FUS, SETD2, KDM5C, PAX3 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
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
100 %
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
100 %
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::DLBCL&FL™ NGS Panel.

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

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

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

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
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
100 %
Gynecologic Tumors Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, RB1, BCOR, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ATM, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Head & Neck Tumors Gene Set.

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

BRCA1, BRCA2, APC, PTEN, TP53, RB1, HRAS, KRAS, NRAS, NSD1, ATM, CDKN2A, SMAD4, NF1, KMT2D, MTOR, NOTCH1, TGFBR2, KDM6A, EP300 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
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 %
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
100 %
RUBINSTEIN-TAYBI SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CREBBP, EP300
Specificity
50 %
Genes
100 %
Rubinstein-Taybi syndrome.

By LifeLabs Genetics in Canada.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi Syndrome , Sequencing EP300 Gene.

By Reference Laboratory Genetics in Spain.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi Syndrome , Deletions-Duplications (MLPA) EP300 Gene.

By Reference Laboratory Genetics in Spain.

EP300
Specificity
100 %
Genes
100 %
Rubinstein-Taybi Syndrome, Panel Massive Sequencing (NGS) CREBBP, EP300 Genes.

By Reference Laboratory Genetics in Spain.

CREBBP, EP300
Specificity
50 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
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 Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, PTEN, TP53, RB1, RET, SEPT9, FGFR2, ATM, CDH1, CDKN2A, FGFR1, GATA3, NEK2, ERBB3, EP300, BAP1, PIK3CA, EGFR, AKT1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MSH2, MSH6, MLH1, TP53, CASP8, BRAF, DMD, KRAS, NRAS, ATM, SMAD4, CTNNB1, TGFBR2, SLC9A9, EP300, SMAD2, PIK3CA, FBXW7, AKT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %


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