DFNA5

gasdermin E
OMIM: 608798, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DFNA5 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 5, MIM# 600994
Tags
  • new gene name

Green DFNA5 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 5, MIM# 600994
Tags
  • new gene name

Green DFNA5 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 5, MIM# 600994

Green DFNA5 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss

Red DFNA5 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal dominant 5, MIM# 600994
Tags
  • new gene name