LRTOMT

leucine rich transmembrane and O-methyltransferase domain containing
OMIM: 612414, Gene2Phenotype

3 panels

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


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Sensorineural hearing loss
  • OrphaNet: ORPHA90636
  • OMIM:611451
Green LRTOMT in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Nonsyndromic Hearing Loss, Recessive
    • Deafness, autosomal recessive 63, 611451
    • hearing loss
    Green LRTOMT in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 63, 611451