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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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

More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET

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). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

Most common symptoms of COLORECTAL CANCER; CRC

Neoplasm
Carcinoma
Oligodontia
Colon cancer
Colitis

More info about COLORECTAL CANCER; CRC

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

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

SOURCES: ORPHANET OMIM

Search interest in EP300

Potential gene panels for EP300 gene

Rubinstein-Taybi Syndrome - EP300 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the EP300 gene.

EP300 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to EP300 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to EP300 gene

STEVENS-JOHNSON SYNDROME

Alternate names

Description

Most common symptoms of STEVENS-JOHNSON SYNDROME

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Description

Most common symptoms of RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Search interest in EP300

Potential gene panels for EP300 gene

Rubinstein-Taybi Syndrome - EP300 Sequencing Panel

Rubinstein-Taybi Syndrome - EP300 Del/Dup Analysis Panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

EP300 sequencing Panel

EP300 deletion/duplication analysis Panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

EP300. Complete sequencing Panel

Rubinstein Taybi Del/Dup Panel Panel

Rubinstein Taybi Seq + Del/Dup Panel Panel

Rubinstein Taybi Seq Analysis Panel

Rubinstein-Taybi Syndrome (deletion/duplication analysis of EP300 gene) Panel

Rubinstein-Taybi syndrome (sequence analysis of EP300 gene) Panel

Rubinstein-Taybi syndrome (sequence analysis of CREBBP and EP300 genes) Panel

Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel Panel

Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

Rubinstein-Taybi Syndrome via EP300 Gene Sequencing with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Rubinstein-Taybi syndrome Comprehensive panel Panel

Rubinstein-Taybi syndrome Deletion / Duplication panel Panel

Rubinstein-Taybi syndrome NGS panel Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Rubinstein-Taybi syndrome Panel

Colorectal cancer, somatic Panel

AllNeuro panel Panel

Single gene testing EP300 Panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Rubinstein-Taybi syndrome 2 (EP300) MLPA Panel

Rubinstein-Taybi syndrome 2 (EP300) MLPA Panel

Rubinstein-Taybi syndrome 2 (EP300) Panel

Cardiovascular Diseases_General Panel Panel

Congenital heart diseases Panel Panel

Rubinstein-Taybi Syndrome panel Panel

qChip Panel

Invitae Rubinstein-Taybi Syndrome Panel Panel

Rubinstein-Taybi Syndrome: EP300 Full Gene Sequencing Panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

Short Stature NGS Panel Panel

Rubenstein-Taybi Syndrome NGS Panel Panel

EP300 Panel

Hemato-oncology chromosomal microarray Panel

Comprehensive Short Stature Syndrome Panel Panel

Facial Dysostosis and Related Disorders Panel Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Focus::DLBCL&FL™ NGS Panel Panel

Focus::Lymphoma™ NGS Panel Panel

Hematopoietic Disorders Gene Set Panel

Gynecologic Tumors Gene Set Panel

Head & Neck Tumors Gene Set Panel

FoundationOne® Heme Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

RUBINSTEIN-TAYBI SYNDROME Panel

Rubinstein-Taybi syndrome Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Rubinstein-Taybi Syndrome , Sequencing EP300 Gene Panel

Rubinstein-Taybi Syndrome , Deletions-Duplications (MLPA) EP300 Gene Panel

Rubinstein-Taybi Syndrome, Panel Massive Sequencing (NGS) CREBBP, EP300 Genes Panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

Tempus xT assay Panel