COVID-19 research

Gene: TMC6

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

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

Green List (high evidence)

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.

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.

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

• 26621750