Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: TMC6

Green List (high evidence)

TMC6 (transmembrane channel like 6)
EnsemblGeneIds (GRCh38): ENSG00000141524
EnsemblGeneIds (GRCh37): ENSG00000141524
OMIM: 605828, Gene2Phenotype
TMC6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas.

At least 3 unrelated families reported.
Created: 3 Apr 2022, 8:37 a.m. | Last Modified: 3 Apr 2022, 8:37 a.m.
Panel Version: 0.12480

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermodysplasia verruciformis, MIM# 226400

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermodysplasia verruciformis, MIM# 226400
OMIM
605828
Clinvar variants
Variants in TMC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmc6 has been classified as Green List (High Evidence).

3 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMC6 were changed from to Epidermodysplasia verruciformis, MIM# 226400

3 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMC6 were set to

3 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMC6 was added gene: TMC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMC6 was set to Unknown