Defects of intrinsic and innate immunity

Gene: TMC8

Green List (high evidence)

TMC8 (transmembrane channel like 8)
EnsemblGeneIds (GRCh38): ENSG00000167895
EnsemblGeneIds (GRCh37): ENSG00000167895
OMIM: 605829, Gene2Phenotype
TMC8 is in 5 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Susceptibility to HPV
Created: 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

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. 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermodysplasia verruciformis 2, MIM# 618231
OMIM
605829
Clinvar variants
Variants in TMC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmc8 has been classified as Green List (High Evidence).

16 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231

16 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMC8 were set to

16 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMC8 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: 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