POLH gene related symptoms and diseases
All the information presented here about the POLH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POLH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microcephaly | Very Common - Between 80% and 100% cases |
| Dermal atrophy | Very Common - Between 80% and 100% cases |
| Cutaneous melanoma | Very Common - Between 80% and 100% cases |
| Entropion | Very Common - Between 80% and 100% cases |
| Poikiloderma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with POLH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Basal cell carcinoma
- Squamous cell carcinoma
- Keratitis
- Ectropion
- Melanoma
- Growth delay
- Conjunctivitis
- Hyperpigmentation of the skin
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POLH gene
Here you will find a list of rare diseases related to the POLH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
XERODERMA PIGMENTOSUM VARIANT
Alternate names
XERODERMA PIGMENTOSUM VARIANT Is also known as xeroderma pigmentosum with normal dna repair rates, photosensitivity with defective dna synthesis, xpv
Description
Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Most common symptoms of XERODERMA PIGMENTOSUM VARIANT
- Microcephaly
- Growth delay
- Photophobia
- Dry skin
- Hypopigmentation of the skin
More info about XERODERMA PIGMENTOSUM VARIANT
Search interest in POLH
Potential gene panels for POLH gene
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.
Xeroderma pigmentosum variant type (sequence analysis of POLH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the POLH gene.
More info about this panel Portugal.
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the POLH gene.
More info about this panel United States.
Xeroderma Pigmentosum Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Xeroderma Pigmentosum Sequencing Panel with CNV Detection that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Xeroderma pigmentosum Comprehensive panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum NGS panel Panel
United States.
By Connective Tissue Gene Tests Xeroderma pigmentosum NGS panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Xeroderma pigmentosum Deletion / Duplication panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum, variant type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the POLH gene.
More info about this panel Germany.
Disorders associated with malignancy Panel Panel
Germany.
By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA
More info about this panel Germany.
Xeroderma pigmentosum Panel Panel
Germany.
By CeGaT GmbH Xeroderma pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
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.
Xeroderma Pigmentosum NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
POLH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POLH 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.
Xeroderma Pigmentosum Panel Panel
Finland.
By Blueprint Genetics Xeroderma Pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Finland.
XERODERMA PIGMENTOSUM Panel
Spain.
By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Spain.
XERODERMA PIGMENTOSUM NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM NGS PANEL that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Spain.
Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
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.
Xeroderma Pigmentosum: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Xeroderma Pigmentosum: gene sequencing panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
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.
Xeroderma Pigmentosum: gene deletion and duplication panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Xeroderma Pigmentosum: gene deletion and duplication panel that also includes the following genes: XPC POLH
More info about this panel Canada.
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