Genomics England
GMS Panels
Panels
Genes and Entities

TMC8

transmembrane channel like 8
OMIM: 605829
PanelMode of inheritanceDetails
3 panels
Green
in Epidermodysplasia verruciformis
R-numbers: R255
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermodysplasia verruciformis 2, 618231
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2, Epidermodysplasia verruciformis 2, 618231, EV2
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermodysplasia verruciformis, 226400, HPV (group B1) infections and cancer of the skin (typical EV), Defects in Intrinsic and Innate Immunity