RAD50 gene related symptoms and diseases
All the information presented here about the RAD50 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RAD50 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Telangiectasia | Uncommon - Between 30% and 50% cases |
| Hypopigmentation of the skin | Uncommon - Between 30% and 50% cases |
| Hypermetropia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RAD50 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Immunodeficiency
- Spasticity
- Ataxia
- Microcephaly
- Short stature
- Primary peritoneal carcinoma
- Carcinoma
- Ovarian papillary adenocarcinoma
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RAD50 gene
Here you will find a list of rare diseases related to the RAD50. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY BREAST AND OVARIAN CANCER SYNDROME
Description
Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.
Most common symptoms of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME
- Neoplasm
- Carcinoma
- Melanoma
- Breast carcinoma
- Ovarian neoplasm
More info about HEREDITARY BREAST AND OVARIAN CANCER SYNDROME
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
Alternate names
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency, nbsld, microcephaly and spontaneous chromosome instability without immunodeficiency, nbs-like disorder, rad50 deficiency
Description
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
Most common symptoms of NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
- Intellectual disability
- Short stature
- Microcephaly
- Ataxia
- Spasticity
More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
Search interest in RAD50
Potential gene panels for RAD50 gene
Hereditary Pancreatic Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDK4 CDKN2A PALB2 APC
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panel United States.
Inherited Cancer Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2
More info about this panel United States.
VisaSeq Breast and GYN Cancer Panel Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta VisaSeq Breast and GYN Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 ABRAXAS1 PALB2 FANCC
More info about this panel Canada.
VistaSeq Breast Cancer Panel Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta VistaSeq Breast Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 ABRAXAS1 PALB2 MRE11 MUTYH
More info about this panel Canada.
RAD50 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RAD50 gene.
More info about this panel Germany.
Hereditary Cancer Panel - Breast/Ovarian/Uterine28 Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Breast/Ovarian/Uterine28 that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1
More info about this panel United States.
Hereditary Cancer Panel- Comprehensive63 Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11
More info about this panel United States.
BreastNext Panel
United States.
By Ambry Genetics BreastNext that also includes the following genes: BRCA1 BRCA2 TP53 CDH1 BRIP1 PALB2 MRE11 MUTYH NBN NF1
More info about this panel United States.
CancerNext-Expanded Panel
United States.
By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
CancerNext Panel
United States.
By Ambry Genetics CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4
More info about this panel United States.
CustomNext: Cancer Panel
United States.
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
OvaNext Panel
United States.
By Ambry Genetics OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panel United States.
TumorNext-HRD+CancerNext Panel
United States.
By Ambry Genetics TumorNext-HRD+CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4
More info about this panel United States.
TumorNext-Lynch+CancerNext Panel
United States.
By Ambry Genetics TumorNext-Lynch+CancerNext that also includes the following genes: BMPR1A BRAF BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1
More info about this panel United States.
TumorNext-HRD+OvaNext Panel
United States.
By Ambry Genetics TumorNext-HRD+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panel United States.
TumorNext-Lynch+OvaNext Panel
United States.
By Ambry Genetics TumorNext-Lynch+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panel United States.
Hereditary Breast, Ovarian, and Endometrial Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Breast, Ovarian, and Endometrial Cancer Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 WRN CDH1 BRIP1 PALB2
More info about this panel United States.
Nijmegen breakage syndrome-like disorder (sequence analysis of RAD50 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RAD50 gene.
More info about this panel Portugal.
Hereditary Ovarian Cancer Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master Hereditary Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 TP53 BRIP1 MRE11 NBN BARD1 RAD50 RAD51 RAD51C
More info about this panel Poland.
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Hereditary Breast and Ovarian Cancer via RAD50 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RAD50 gene.
More info about this panel United States.
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Ovarian Cancer Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panel United States.
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1
More info about this panel United States.
Nijmegen Breakage Syndrome like Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the RAD50 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 panel Germany.
Breast and Ovarian Cancer - extended Diagnostic Panel Panel
Germany.
By CeGaT GmbH Breast and Ovarian Cancer - extended Diagnostic Panel that also includes the following genes: SDHB SDHC SDHD BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1
More info about this panel Germany.
Breast and Ovarian Cancer Panel
Estonia.
By Asper Biogene Asper Biogene LLC Breast and Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CHD1 BRIP1 PALB2 MEN1 MLH1
More info about this panel Estonia.
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.
Inherited Cancer Screen Panel
United States.
By Counsyl Inherited Cancer Screen that also includes the following genes: SDHA SDHB SDHC BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL
More info about this panel United States.
qCancer Risk Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCancer Risk that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1
More info about this panel Spain.
qCancer Risk Expanded Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCancer Risk Expanded that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1
More info about this panel Spain.
qCancer Gine Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCancer Gine that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 MLH1 MRE11
More info about this panel Spain.
Invitae Breast Cancer Panel Panel
United States.
By Invitae Invitae Breast Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 NBN NF1 ATM
More info about this panel United States.
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel
United States.
By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM
More info about this panel United States.
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.
Invitae Breast and Gyn Cancers Panel Panel
United States.
By Invitae Invitae Breast and Gyn Cancers Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2
More info about this panel United States.
COLON, BREAST AND OVARIAN CANCER Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON, BREAST AND OVARIAN CANCER that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2
More info about this panel Spain.
Hereditary Cancer Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panel United States.
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2
More info about this panel United States.
Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panel United States.
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.
RAD50 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RAD50 gene.
More info about this panel United States.
Focus Cancer Panel - 40 Genes Panel
United States.
By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A
More info about this panel United States.
Breast Cancer Focus Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Breast Cancer Focus Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 MRE11 NBN ATM
More info about this panel United States.
Comprehensive Cancer Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel United States.
Breast Cancer Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Breast Cancer Comprehensive Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CDH1 BRIP1 PALB2 MRE11 NBN
More info about this panel United States.
BREASTON-EXTENDED Panel
Hungary.
By PentaCoreLab BREASTON-EXTENDED that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 ERBB2 KRAS DIRAS3
More info about this panel Hungary.
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 Breast and Gynecological Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Breast and Gynecological Cancer Panel that also includes the following genes: BLM BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1
More info about this panel Finland.
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.
Hereditary Breast and Ovarian Cancer 26 Gene Panel Panel
United States.
By Veritas Genetics Veritas Genetics Hereditary Breast and Ovarian Cancer 26 Gene Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 ABRAXAS1 PALB2
More info about this panel United States.
Hereditary Cancer Comprehensive Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC
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.
Otogenetics Hereditary Cancers Panel
United States.
By Otogenetics Otogenetics Hereditary Cancers that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL ELAC2 PALLD CDH1
More info about this panel United States.
BREAST AND OVARIAN CANCER NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B
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.
Phosphorus Common/High Risk Cancers Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Common/High Risk Cancers Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A
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.
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2
More info about this panel Canada.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
Hereditary Cancer Syndrome: Gene Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panel Canada.
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panel Canada.
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