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.

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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.


GIANT CELL GLIOBLASTOMA



More info about GIANT CELL GLIOBLASTOMA

SOURCES: ORPHANET

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


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

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

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

Test for Lung Cancer, EGFR-Related Panel

Argentina.

By CIBIC S.A.

This panel specifically test the EGFR gene.

More info about this panel

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

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

Detection by FISH of EGFR Panel

Portugal.

By CGC Genetics

This panel specifically test the EGFR gene.

More info about this panel

Deletion/duplication analysis of EGFR gene Panel

Portugal.

By CGC Genetics

This panel specifically test the EGFR gene.

More info about this panel

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

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

Deletion/duplication analysis of EGFR gene Panel

Portugal.

By CGC Genetics

This panel specifically test the EGFR gene.

More info about this panel

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

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

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

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

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

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

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

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

Lung cancer Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EGFR gene.

More info about this panel

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

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

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

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

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

EGFR Full Gene Sequencing Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EGFR gene.

More info about this panel

EGFR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EGFR gene.

More info about this panel

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

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

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

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

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

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

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

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

EGFR, full sequencing Panel

Spain.

By Bioarray

This panel specifically test the EGFR gene.

More info about this panel

Lung cancer Panel

Spain.

By Bioarray

This panel specifically test the EGFR gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

Circulo Colorectal Panel

United States.

By Circulogene Theranostics

This panel specifically test the EGFR gene.

More info about this panel

Circulo Lung Panel

United States.

By Circulogene Theranostics

This panel specifically test the EGFR gene.

More info about this panel

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

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

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

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

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

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

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

Lung Cancer , Sequencing EGFR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EGFR gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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


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