Epidermodysplasia verruciformis
Gene: TMC8
TMC8 (transmembrane channel like 8)
EnsemblGeneIds (GRCh38): ENSG00000167895
EnsemblGeneIds (GRCh37): ENSG00000167895
OMIM: 605829, Gene2Phenotype
TMC8 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000167895
EnsemblGeneIds (GRCh37): ENSG00000167895
OMIM: 605829, Gene2Phenotype
TMC8 is in 5 panels
2 reviews
Catherine Snow (Genomics England)
Comment on publications: Publication added which verifies TMC8 as a Green geneCreated: 3 Dec 2019, 1:27 p.m. | Last Modified: 3 Dec 2019, 1:27 p.m.
Panel Version: 0.12
Rebecca Foulger (Genomics England curator)
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: TMC8; 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: 29 Jan 2019, 1:21 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Epidermodysplasia verruciformis 2, 618231
- OMIM
- 605829
- Clinvar variants
- Variants in TMC8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Dec 2019, Gel status: 3
Set publications
Catherine Snow (Genomics England)Publications for gene: TMC8 were set to
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to TMC8.
29 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TMC8 was added gene: TMC8 was added to Epidermodysplasia verruciformis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis 2, 618231