1. Genes and Genomic Entities
  2. TMC1

TMC1

transmembrane channel like 1
OMIM: 606706, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMC1 in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Sensorineural hearing loss
  • OrphaNet ORPHA90636
  • OMIM600974
Green TMC1 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • hearing loss
    • Nonsyndromic Hearing Loss, Dominant
    • Deafness, autosomal recessive 7, 600974
    • Nonsyndromic Hearing Loss, Recessive
    • Nonsyndromic Hearing Loss, Dominant
    • #606705:Deafness, autosomal dominant 36
    Green TMC1 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant 36, 606705
    • Deafness, autosomal recessive 7, 600974