Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: TMC6

Green List (high evidence)

TMC6 (transmembrane channel like 6)
EnsemblGeneIds (GRCh38): ENSG00000141524
EnsemblGeneIds (GRCh37): ENSG00000141524
OMIM: 605828, Gene2Phenotype
TMC6 is in 7 panels

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added MIM number to Epidermodysplasia verruciformis phenotype
Created: 19 Jun 2018, 4:30 p.m.
Comment on publications: Added publications relating to the disease PID classification and variants
Created: 19 Jun 2018, 4:30 p.m.
Comment on list classification: Rating this gene green as there are plausible disease-causing mutations in the TMC6 gene in more than 3 families.
Created: 19 Jun 2018, 4:28 p.m.
This gene (also called EVER1) is associated with Epidermodysplasia verruciformis in OMIM. Patients with Epidermodysplasia verruciformis develop flat warts, caused by a specific group of human papillomaviruses (HPV), which may degenerate into nonmelanoma skin cancers. This disease is listed as a primary immune deficiency by the WHO Committee on Primary Immunodeficiency Diseases (Notarangelo et al 2004 (15356576). See Przybyszewska et al (2017) (PMID: 28196644) for a review of its role in immunity. In 2 Algerian families and in 1 Colombian family, Ramoz et al. (2002)(PMID: 12426567) found that epidermodysplasia verruciformis was associated with homozygosity for two separate nonsense mutations of the EVER1 gene. Tate et al. (2004)(PMID:15042430]) identified compound heterozygosity for mutations in the EVER1 gene in a Japanese woman with epidermodysplasia verruciformis. Zuo et al (2006)(PMID: 17008061) also report a patient with an insertion of CATGT in exon 9 leading to a premature termination codon.
Created: 19 Jun 2018, 4:27 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TMC6 .PanelApp HGNC gene symbol check: TMC6 . IUIS Disease: EVER1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Keratinocytes and leukocytes. IUIS Associated features: Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Epidermodysplasia verruciformis (HPV)
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 12:03 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TMC6 (gene 1), PanelApp HGNC gene symbol check: TMC6, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Epidermodysplasia verruciformis / Epidermodysplasia verruciformis
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TMC6, GRID_Gene_Symbol: TMC6, GRID_Transcript_ENS_Community submitted: ENST00000322914, GRID_Transcript_RefSeq: NM_007267.6, GRID_Transcript_ENS_used_on_Production: ENST00000322914
Created: 17 Apr 2018, 12:12 p.m.

Ellen McDonagh (Genomics England Curator)

In these patients, lesions degenerate into nonmelanoma skin cancers caused by a specific group of human papillomaviruses (HPV), the Epidermodysplasia Verruciformis-associated oncogenic beta-HPV (EV-HPV) (PMID:26621750).
Created: 14 Mar 2017, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermodysplasia Verruciformis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Literature
Phenotypes
  • Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV)
  • Epidermodysplasia verruciformis, 226400
  • Defects in Intrinsic and Innate Immunity
  • Epidermodysplasia Verruciformis
OMIM
605828
Clinvar variants
Variants in TMC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV); Epidermodysplasia verruciformis, 226400; Defects in Intrinsic and Innate Immunity for gene: TMC6 Publications for gene TMC6 were updated from 26621750 to 15356576; 28196644; 15042430; 12426567; 17008061; 26621750

31 Mar 2020, Gel status: 3

Added New Source, Added New Source, Added New Source, Set mode of inheritance, Status Update

Ellen McDonagh (Genomics England Curator)

Source Melbourne Genomics Health Alliance Immunology Flagship was added to TMC6. Source Victorian Clinical Genetics Services was added to TMC6. Source Expert Review Green was added to TMC6. Mode of inheritance for gene TMC6 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Mar 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMC6 was added to Monogenic viral susceptibilitypanel. Sources: Literature

14 Mar 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMC6 was created by ellenmcdonagh