TMC8 gene related symptoms and diseases

All the information presented here about the TMC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TMC8 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Papule Very Common - Between 80% and 100% cases
Neoplasm of the skin Very Common - Between 80% and 100% cases
Hypopigmented skin patches Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TMC8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Recurrent skin infections
  • Squamous cell carcinoma
  • Basal cell carcinoma
  • Telangiectasia of the skin
  • Multiple cafe-au-lait spots
  • Abnormality of the immune system
  • Pustule
  • Verrucae

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TMC8 gene

Here you will find a list of rare diseases related to the TMC8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPIDERMODYSPLASIA VERRUCIFORMIS


Alternate names

EPIDERMODYSPLASIA VERRUCIFORMIS Is also known as lutz-lewandowsky epidermodysplasia verruciformis, lewandowsky-lutz syndrome

Description

Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.

Most common symptoms of EPIDERMODYSPLASIA VERRUCIFORMIS

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Papule
  • Neoplasm of the skin
  • Hypopigmented skin patches


More info about EPIDERMODYSPLASIA VERRUCIFORMIS

SOURCES: ORPHANET OMIM


Potential gene panels for TMC8 gene

TMC8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TMC8 gene.

More info about this panel

Epidermodysplasia verruciformis(sequence analysis of TMC8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TMC8 gene.

More info about this panel

Defects in innate immunity Panel Panel

Germany.

By CeGaT GmbH Defects in innate immunity Panel that also includes the following genes: STAT1 TBK1 TLR3 TRAF3 TRAF3IP2 UNC93B1 CARD9 IL17F TIRAP IRAK4

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Epidermodysplasia Verruciformis Panel Panel

United States.

By Invitae Invitae Epidermodysplasia Verruciformis Panel that also includes the following genes: TMC6 TMC8 CXCR4 RHOH

More info about this panel

TMC8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TMC8 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Epidermodysplasia verruciformis Panel

Spain.

By Bioarray

This panel specifically test the TMC8 gene.

More info about this panel

Epidermodysplasia Verruciformis, Sequencing TMC8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TMC8 gene.

More info about this panel

Epidermodysplasia Verruciformis, Panel Massive Sequencing (NGS) TMC6, TMC8 Genes Panel

Spain.

By Reference Laboratory Genetics Epidermodysplasia Verruciformis, Panel Massive Sequencing (NGS) TMC6, TMC8 Genes that also includes the following genes: TMC6 TMC8

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 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


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