EGFR gene related symptoms and diseases
All the information presented here about the EGFR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EGFR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Respiratory distress | Uncommon - Between 30% and 50% cases |
| Diarrhea | Uncommon - Between 30% and 50% cases |
| Neoplasm | Rare - less than 30% cases |
| Coarctation of aorta | Rare - less than 30% cases |
| Edema | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with EGFR gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Vomiting
- Papule
- Postural instability
- Dehydration
- Long eyelashes
- Epidermal acanthosis
- Failure to thrive
- Recurrent pneumonia
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EGFR gene
Here you will find a list of rare diseases related to the EGFR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLIOSARCOMA
GIANT CELL GLIOBLASTOMA
LUNG CANCER
Description
Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).
Most common symptoms of LUNG CANCER
- Neoplasm
- Pain
- Fatigue
- Respiratory distress
- Diarrhea
More info about LUNG CANCER
SOURCES: OMIM
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2
Most common symptoms of INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2
- Failure to thrive
- Hypertension
- Respiratory distress
- Edema
- Vomiting
More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2
SOURCES: OMIM
NEONATAL INFLAMMATORY SKIN AND BOWEL DISEASE
Description
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
More info about NEONATAL INFLAMMATORY SKIN AND BOWEL DISEASE
SOURCES: ORPHANET
Search interest in EGFR
Potential gene panels for EGFR gene
EGFR Mutation Analysis Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the EGFR gene.
More info about this panel United States.
EGFR. Detection of the germinal mutations by complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EGFR gene.
More info about this panel Spain.
EGFR. Sequencing of the exons 18, 19, 20 and 21 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EGFR gene.
More info about this panel Spain.
Test for Lung Cancer, EGFR-Related Panel
Argentina.
By CIBIC S.A.
This panel specifically test the EGFR gene.
More info about this panel Argentina.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Lung cancer (sequence analysis of exons 18 - 21 of EGFR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EGFR gene.
More info about this panel Portugal.
Detection by FISH of EGFR Panel
Portugal.
By CGC Genetics
This panel specifically test the EGFR gene.
More info about this panel Portugal.
Deletion/duplication analysis of EGFR gene Panel
Portugal.
By CGC Genetics
This panel specifically test the EGFR gene.
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Deletion/duplication analysis of EGFR gene Panel
Portugal.
By CGC Genetics
This panel specifically test the EGFR gene.
More info about this panel Portugal.
Lung Cancer, EGFR-Related Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the EGFR gene.
More info about this panel Germany.
Lung Cancer Susceptibility via EGFR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EGFR gene.
More info about this panel United States.
Hypomagnesemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panel United States.
Custom solid tumor gene sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panel United States.
Hereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Germany.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
Solid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panel Germany.
EGFR, selective sequencing of exons 18-21 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EGFR gene.
More info about this panel Germany.
Lung cancer Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EGFR gene.
More info about this panel Germany.
Cancer Predisposition Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel Estonia.
Invitae Multi-Cancer Panel Panel
United States.
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Lung cancer: EGFR gene screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EGFR gene.
More info about this panel Spain.
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panel Spain.
Hereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel United States.
EGFR Full Gene Sequencing Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EGFR gene.
More info about this panel United States.
EGFR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EGFR gene.
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Hereditary Lung Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Lung Cancer Panel that also includes the following genes: BRCA2 TP53 CDKN2A EGFR
More info about this panel Finland.
EGFR Mutation by Sanger Sequencing Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc.
This panel specifically test the EGFR gene.
More info about this panel United States.
EGFR Mutation Analysis (cobas®) Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc.
This panel specifically test the EGFR gene.
More info about this panel United States.
EGFR Mutation Analysis Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc.
This panel specifically test the EGFR gene.
More info about this panel United States.
Liquid::Lung-cfDNA™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Liquid::Lung-cfDNA™ NGS Panel that also includes the following genes: ROS1 BRAF TP53 EGFR ERBB2 ALK KRAS MAP2K1 MET NRAS
More info about this panel United States.
Focus::Oncomine™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Oncomine™ NGS Panel that also includes the following genes: ROS1 BRAF SMO CDK4 CTNNB1 DDR2 EGFR ERBB2 ERBB3 ERBB4
More info about this panel United States.
Focus::Renal® NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL
More info about this panel United States.
EGFR, full sequencing Panel
Spain.
By Bioarray
This panel specifically test the EGFR gene.
More info about this panel Spain.
Lung cancer Panel
Spain.
By Bioarray
This panel specifically test the EGFR gene.
More info about this panel Spain.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
CNS Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1
More info about this panel United States.
Melanoma Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1
More info about this panel United States.
Breast Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Breast Tumors Gene Set that also includes the following genes: RUNX1 BRAF BRCA1 BRCA2 STK11 TP53 FBXW7 RAD54B CDH1 CDK4
More info about this panel United States.
Genitourinary Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1
More info about this panel United States.
Gynecologic Tumors Gene Set Panel
United States.
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 panel United States.
Head & Neck Tumors Gene Set Panel
United States.
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 panel United States.
FoundationOne® Heme Panel
United States.
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 panel United States.
Guardant360 Panel
United States.
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panel United States.
Comprehensive Panel for Individualized Cancer Threatment Panel
Greece.
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Greece.
Cancer Hotspot Analysis Panel
United States.
By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
Circulo Colorectal Panel
United States.
By Circulogene Theranostics
This panel specifically test the EGFR gene.
More info about this panel United States.
Circulo Lung Panel
United States.
By Circulogene Theranostics
This panel specifically test the EGFR gene.
More info about this panel United States.
EGFR T790M Germline Mutation Analysis Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc.
This panel specifically test the EGFR gene.
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
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 panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
LUNG CANCER (NSCLC) (Gefitinib treatment) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the EGFR gene.
More info about this panel Spain.
Solid Tumor Targeted Mutation and Fusion Panel Panel
United States.
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
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 panel United States.
Lung Cancer , Sequencing EGFR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EGFR gene.
More info about this panel Spain.
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Spain.
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: BRAF BRCA2 TP53 EGFR ERBB2 IDH1 IDH2 LGI1 PRKN PIK3CA
More info about this panel Spain.
Phosphorus Pan-Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
GeneStrat Genomic Test Panel
United States.
By Biodesix, Inc. Biodesix, Inc. GeneStrat Genomic Test that also includes the following genes: ROS1 BRAF EGFR ALK KRAS RET
More info about this panel United States.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
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 panel United States.
Tempus xT assay Panel
United States.
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 panel United States.
Tempus xO assay Panel
United States.
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 panel United States.
CEN4GEN Breast cancer: Extended gene sequencing Panel Panel
Canada.
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 panel Canada.
CEN4GEN Lung cancer: Extended gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A
More info about this panel Canada.
CEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Ovarian cancer: Extended gene sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 ARID1A TP53 USP16 MAS1L CCNE1 CBLC KREMEN1
More info about this panel Canada.
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 SMO STK11 TP53 VHL WT1 CDKN2A CTNNB1
More info about this panel Canada.
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Canada.
PrimBio Cancer HotSpot Panel Panel
United States.
By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RASA2 TECRL KRT1 SLC45A2