POT1 gene related symptoms and diseases
All the information presented here about the POT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POT1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Melanoma | Uncommon - Between 30% and 50% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Leukemia | Uncommon - Between 30% and 50% cases |
| Retinopathy | Rare - less than 30% cases |
| Rheumatoid arthritis | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with POT1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Hyperthyroidism
- Hodgkin lymphoma
- Acute leukemia
- B-cell lymphoma
- Lymphoproliferative disorder
- Chronic lymphatic leukemia
- Lymphoma
- Cellular immunodeficiency
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POT1 gene
Here you will find a list of rare diseases related to the POT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OLIGODENDROGLIOMA
ANAPLASTIC OLIGODENDROGLIOMA
FAMILIAL MELANOMA
Description
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
Most common symptoms of FAMILIAL MELANOMA
- Retinopathy
- Dry skin
- Nevus
- Abnormality of extrapyramidal motor function
- Abnormality of the hair
More info about FAMILIAL MELANOMA
SOURCES: ORPHANET
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA
Alternate names
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll, small lymphocytic lymphoma, b-cell chronic lymphoid leukemia, leukemia, chronic lymphatic
Description
B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.
Most common symptoms of B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA
- Neoplasm
- Anemia
- Splenomegaly
- Recurrent infections
- Thrombocytopenia
More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10
Most common symptoms of MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10
- Melanoma
More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10
SOURCES: OMIM
GLIOMA SUSCEPTIBILITY 9; GLM9
Most common symptoms of GLIOMA SUSCEPTIBILITY 9; GLM9
- Neoplasm
- Leukemia
- Melanoma
- Neoplasm of the lung
- Renal neoplasm
More info about GLIOMA SUSCEPTIBILITY 9; GLM9
SOURCES: OMIM
Search interest in POT1
Potential gene panels for POT1 gene
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 1: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: TP53 POT1 TERF2IP ACD KLHDC8B MLH1 MSH2 MSH6 NPAT PMS2
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 POT1 ACD NAF1 WRAP53
More info about this panel United States.
Hereditary Melanoma Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Melanoma Sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN POT1 CDK4 CDKN2A ACD MC1R POLE
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
BrainTumorNext Panel
United States.
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
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.
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.
Glioma (sequence analysis of POT1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the POT1 gene.
More info about this panel Portugal.
Glioma (sequence analysis of POT1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the POT1 gene.
More info about this panel Portugal.
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.
Melanoma Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Melanoma Sequencing Panel with CNV Detection that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1
More info about this panel United States.
Custom gene seqeuncing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S
More info about this panel United States.
Familial Melanoma panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Familial Melanoma panel that also includes the following genes: POT1 CDK4 CDKN2A ACD MC1R MITF BAP1
More info about this panel United States.
POT1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the POT1 gene.
More info about this panel Germany.
Melanoma, cutaneous malignant, familial type 10, susceptibility to Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the POT1 gene.
More info about this panel Germany.
Familial melanoma Panel Panel
Germany.
By CeGaT GmbH Familial melanoma Panel that also includes the following genes: POT1 CDK4 CDKN2A MC1R MITF BAP1 PTEN RB1
More info about this panel Germany.
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 Melanoma Panel Panel
United States.
By Invitae Invitae Melanoma Panel that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1
More info about this panel United States.
POT1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POT1 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 Melanoma and Skin Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Melanoma and Skin Cancer Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN XPA XPC SUFU POT1 CDK4 CDKN2A
More info about this panel Finland.
Focus::MCL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panel United States.
Focus::CLL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::CLL™ NGS Panel that also includes the following genes: SF3B1 BRAF BTK MED12 TP53 TRAF2 XPO1 ZMYM3 IKZF3 CARD11
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.
Inherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
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.
MELANOMA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MELANOMA NGS PANEL that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN POT1 CDK4 CDKN2A CDKN2B TERF2IP
More info about this panel Spain.
Phosphorus Melanoma Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Melanoma Panel that also includes the following genes: BRCA2 TP53 POT1 CDK4 CDKN2A MITF BAP1 PTEN RB1
More info about this panel United States.
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.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPECC1L MT-ND2 FBLN5 ACTG2 WARS2 ZNF507 GRIN2B