PMS1 gene related symptoms and diseases
All the information presented here about the PMS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PMS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Prostate cancer | Very Common - Between 80% and 100% cases |
| Breast carcinoma | Very Common - Between 80% and 100% cases |
| Hemiplegia/hemiparesis | Very Common - Between 80% and 100% cases |
| Basal cell carcinoma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PMS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Visual field defect
- Colon cancer
- Neuroblastoma
- Ovarian neoplasm
- Hepatocellular carcinoma
- Neoplasm of the pancreas
- Pituitary adenoma
- Intestinal polyposis
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PMS1 gene
Here you will find a list of rare diseases related to the PMS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LYNCH SYNDROME
Alternate names
LYNCH SYNDROME Is also known as coca2, colon cancer, familial nonpolyposis, type 2, fcc2
Most common symptoms of LYNCH SYNDROME
- Seizures
- Neoplasm
- Muscular hypotonia
- Flexion contracture
- Visual impairment
More info about LYNCH SYNDROME
Search interest in PMS1
Potential gene panels for PMS1 gene
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.
Hereditary Colorectal/Gastrointestinal Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Hereditary Colorectal/Gastrointestinal Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A PALB2
More info about this panel United States.
PMS1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMS1 gene.
More info about this panel Spain.
Hereditary nonpolyposis colon cancer (sequence analysis of PMS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PMS1 gene.
More info about this panel Portugal.
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.
Colorectal Cancer Panel
Germany.
By MGZ Medical Genetics Center Colorectal Cancer that also includes the following genes: BMPR1A STK11 BUB1B TP53 APC SMAD4 MET MLH1 MSH2 MSH6
More info about this panel Germany.
Hnpcc Deep Intronic Panel
Germany.
By MGZ Medical Genetics Center Hnpcc Deep Intronic that also includes the following genes: EPCAM MLH1 MLH3 MSH2 MSH3 MSH6 PMS1 PMS2
More info about this panel Germany.
Gastric Cancer Panel
Germany.
By MGZ Medical Genetics Center Gastric Cancer that also includes the following genes: BMPR1A STK11 TP53 CDH1 MLH1 MSH2 MSH6 PMS1 PMS2
More info about this panel Germany.
Pancreatic Cancer Panel
Germany.
By MGZ Medical Genetics Center Pancreatic Cancer that also includes the following genes: BRCA2 STK11 CDKN2A PALB2 MLH1 MSH2 MSH6 PMS1 PMS2 PTEN
More info about this panel Germany.
Nonpolyposis colon cancer Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PMS1 gene.
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.
COLON CANCER Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON CANCER that also includes the following genes: BMPR1A STK11 EPCAM FLCN ENG APC SMAD4 MLH1 MSH2 MSH3
More info about this panel Spain.
ONCOLOGY, PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panel Spain.
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.
Colon Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Colon Cancer NGS Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 CDKN2A GALNT12 FLCN EXO1
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.
PMS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PMS1 gene.
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.
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 nonpolyposis colorectal cancer Panel
Spain.
By Bioarray
This panel specifically test the PMS1 gene.
More info about this panel Spain.
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.
COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) that also includes the following genes: MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
More info about this panel Spain.
COLORECTAL CANCER HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL COLORECTAL CANCER HEREDITARY NGS PANEL that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 GREM1 APC SMAD4 MLH1 MLH3
More info about this panel Spain.
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.
COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) NGS PANEL that also includes the following genes: EPCAM TGFBR2 MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
More info about this panel Spain.
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.
PrimBio Colorectal Cancer Panel Panel
United States.
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
More info about this panel United States.
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