DFNB59

pejvakin
OMIM: 610219, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DFNB59 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 59, MIM# 610220

Green DFNB59 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 59, MIM# 610220
Tags
  • new gene name

Green DFNB59 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
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 recessive 59, MIM# 610220

Green DFNB59 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss

Green DFNB59 in Auditory Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 59 MIM#610220
  • non-syndromic auditory neuropathy spectrum disorder

Green DFNB59 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive 59, MIM# 610220
Tags
  • new gene name
  • deafness