Pigmentary skin disorders

Gene: TMC6

Green List (high evidence)

TMC6 (transmembrane channel like 6)
EnsemblGeneIds (GRCh38): ENSG00000141524
EnsemblGeneIds (GRCh37): ENSG00000141524
OMIM: 605828, Gene2Phenotype
TMC6 is in 4 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1; EV1

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TMC6; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • EV1
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
OMIM
605828
Clinvar variants
Variants in TMC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes EV1; EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 for gene: TMC6 Publications for gene TMC6 were changed from to 12426567

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TMC6.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TMC6 was added gene: TMC6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis, 226400