ClinGen Gene Validity Curations

Gene: TMC1

Green List (high evidence)

TMC1 (transmembrane channel like 1)
EnsemblGeneIds (GRCh38): ENSG00000165091
EnsemblGeneIds (GRCh37): ENSG00000165091
OMIM: 606706, Gene2Phenotype
TMC1 is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Sensorineural hearing loss
  • OrphaNet ORPHA90636
  • OMIM600974
OMIM
606706
Clinvar variants
Variants in TMC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TMC1 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMC1 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMC1 was created by ellenmcdonagh