Defects of intrinsic and innate immunity
Gene: TMC8
Susceptibility to HPVCreated: 27 Oct 2022, 3:47 a.m. | Last Modified: 27 Oct 2022, 3:47 a.m.
Panel Version: 0.106
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermodysplasia verruciformis 2
Publications
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. At least 3 unrelated families reported.Created: 16 May 2022, 7:24 a.m. | Last Modified: 16 May 2022, 7:24 a.m.
Panel Version: 0.109
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermodysplasia verruciformis 2, MIM# 618231
Publications
Gene: tmc8 has been classified as Green List (High Evidence).
Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231
Publications for gene: TMC8 were set to
Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: TMC8 was added gene: TMC8 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TMC8 was set to Unknown