Multiple monogenic benign skin tumours
Gene: TMC8EnsemblGeneIds (GRCh38): ENSG00000167895
EnsemblGeneIds (GRCh37): ENSG00000167895
OMIM: 605829, Gene2Phenotype
TMC8 is in 5 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
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, 10:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Epidermodysplasia verruciformis 2, 618231
- Epidermodysplasia verruciformis
- Tags
- OMIM
- 605829
- Clinvar variants
- Variants in TMC8
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TMC8.
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Removed was added to TMC8. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to TMC8.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TMC8 was added gene: TMC8 was added to Multiple monogenic benign skin tumours. 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