DFNA5

gasdermin E
OMIM: 608798, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green DFNA5 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.200
Latest signed off version: v2.5 (13 Feb 2020)

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 1.84

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