EP300 gene related symptoms and diseases
All the information presented here about the EP300 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EP300 gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Uncommon - Between 30% and 50% cases |
Abnormal facial shape | Uncommon - Between 30% and 50% cases |
Syndactyly | Uncommon - Between 30% and 50% cases |
Intellectual disability, mild | Uncommon - Between 30% and 50% cases |
Downslanted palpebral fissures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EP300 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intrauterine growth retardation
- Myopia
- Wide nasal bridge
- Delayed speech and language development
- High palate
- Cognitive impairment
- Cryptorchidism
- Micrognathia
And 91 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EP300 gene
Here you will find a list of rare diseases related to the EP300. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STEVENS-JOHNSON SYNDROME
Alternate names
STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type
Description
Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
Most common symptoms of STEVENS-JOHNSON SYNDROME
- Anemia
- Visual impairment
- Fever
- Fatigue
- Dysphagia
COLORECTAL CANCER; CRC
Alternate names
COLORECTAL CANCER; CRC Is also known as colon cancer
Description
Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013).
Most common symptoms of COLORECTAL CANCER; CRC
- Neoplasm
- Carcinoma
- Oligodontia
- Colon cancer
- Colitis
SOURCES: OMIM
RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY
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 ).
Most common symptoms of RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Scoliosis
Search interest in EP300
Potential gene panels for EP300 gene
Rubinstein-Taybi Syndrome - EP300 Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi Syndrome - EP300 Del/Dup Analysis Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the EP300 gene.
More info about this panelCornelia de Lange Syndrome PLUS Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panelEP300 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the EP300 gene.
More info about this panelEP300 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the EP300 gene.
More info about this panelCornelia de Lange PLUS Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panelEP300. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EP300 gene.
More info about this panelRubinstein Taybi Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Rubinstein Taybi Del/Dup Panel that also includes the following genes: CREBBP EP300
More info about this panelRubinstein Taybi Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Rubinstein Taybi Seq + Del/Dup Panel that also includes the following genes: CREBBP EP300
More info about this panelRubinstein Taybi Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Rubinstein Taybi Seq Analysis that also includes the following genes: CREBBP EP300
More info about this panelRubinstein-Taybi Syndrome (deletion/duplication analysis of EP300 gene) Panel
By CGC Genetics
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi syndrome (sequence analysis of EP300 gene) Panel
By CGC Genetics
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi syndrome (sequence analysis of CREBBP and EP300 genes) Panel
By CGC Genetics Rubinstein-Taybi syndrome (sequence analysis of CREBBP and EP300 genes) that also includes the following genes: CREBBP EP300
More info about this panelRubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel that also includes the following genes: SRCAP CREBBP EP300
More info about this panelFacial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP
More info about this panelCornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panelRubinstein-Taybi Syndrome via EP300 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the EP300 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelRubinstein-Taybi syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Rubinstein-Taybi syndrome Comprehensive panel that also includes the following genes: CREBBP EP300
More info about this panelRubinstein-Taybi syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Rubinstein-Taybi syndrome Deletion / Duplication panel that also includes the following genes: CREBBP EP300
More info about this panelRubinstein-Taybi syndrome NGS panel Panel
By Connective Tissue Gene Tests Rubinstein-Taybi syndrome NGS panel that also includes the following genes: CREBBP EP300
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelRubinstein-Taybi syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EP300 gene.
More info about this panelColorectal cancer, somatic Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EP300 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelSingle gene testing EP300 Panel
By CeGaT GmbH
This panel specifically test the EP300 gene.
More info about this panelSelected Genetic Syndromes with skeletal involvement Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panelRubinstein-Taybi syndrome 2 (EP300) MLPA Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi syndrome 2 (EP300) MLPA Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi syndrome 2 (EP300) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the EP300 gene.
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelRubinstein-Taybi Syndrome panel Panel
By Molecular Vision Laboratory Rubinstein-Taybi Syndrome panel that also includes the following genes: SRCAP CREBBP EP300
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelInvitae Rubinstein-Taybi Syndrome Panel Panel
By Invitae Invitae Rubinstein-Taybi Syndrome Panel that also includes the following genes: CREBBP EP300
More info about this panelRubinstein-Taybi Syndrome: EP300 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the EP300 gene.
More info about this panelProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panelShort Stature NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Short Stature NGS Panel that also includes the following genes: SMC1A SOS1 CREBBP DHCR7 NIPBL EP300 FGD1 KRAS PTPN11 RAF1
More info about this panelRubenstein-Taybi Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Rubenstein-Taybi Syndrome NGS Panel that also includes the following genes: CREBBP EP300
More info about this panelEP300 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EP300 gene.
More info about this panelHemato-oncology chromosomal microarray Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panelComprehensive Short Stature Syndrome Panel Panel
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panelFacial Dysostosis and Related Disorders Panel Panel
By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelFocus::DLBCL&FL™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panelFocus::Lymphoma™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panelHematopoietic Disorders Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1
More info about this panelGynecologic Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1
More info about this panelHead & Neck Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelRUBINSTEIN-TAYBI SYNDROME Panel
By Laboratorio de Genetica Clinica SL RUBINSTEIN-TAYBI SYNDROME that also includes the following genes: CREBBP EP300
More info about this panelRubinstein-Taybi syndrome Panel
By LifeLabs Genetics
This panel specifically test the EP300 gene.
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelRubinstein-Taybi Syndrome , Sequencing EP300 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi Syndrome , Deletions-Duplications (MLPA) EP300 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EP300 gene.
More info about this panelRubinstein-Taybi Syndrome, Panel Massive Sequencing (NGS) CREBBP, EP300 Genes Panel
By Reference Laboratory Genetics Rubinstein-Taybi Syndrome, Panel Massive Sequencing (NGS) CREBBP, EP300 Genes that also includes the following genes: CREBBP EP300
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelCEN4GEN Breast cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16
More info about this panelCEN4GEN Colorectal cancer: Extended Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27
More info about this panelPrimBio Colorectal Cancer Panel Panel
By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2
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