DFNA5

gasdermin E
OMIM: 608798, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green DFNA5 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.25
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Nonsyndromic Hearing Loss, Mixed
    • #600994:Deafness, autosomal dominant 5
    • hearing loss
    Tags
    • new-gene-name
    Green DFNA5 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant 5, 600994
    Tags
    • new-gene-name