DIAPH3

diaphanous related formin 3
OMIM: 614567, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red DIAPH3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1, MIM#609129

Amber DIAPH3 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1, MIM#609129

Amber DIAPH3 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1, MIM#609129
Tags
  • 5'UTR

Amber DIAPH3 in Auditory Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1 MIM#609129
  • non-syndromic auditory neuropathy spectrum disorder