COVID-19 research
Gene: TMC6
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on phenotypes: Added MIM number to Epidermodysplasia verruciformis phenotypeCreated: 19 Jun 2018, 4:30 p.m.
Comment on publications: Added publications relating to the disease PID classification and variantsCreated: 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.
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 verruciformisCreated: 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: ENST00000322914Created: 17 Apr 2018, 12:12 p.m.
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
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
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)
TMC6 was added to Monogenic viral susceptibilitypanel. Sources: Literature
TMC6 was created by ellenmcdonagh