DIAPH3

diaphanous related formin 3
OMIM: 614567, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red DIAPH3 in Mendeliome


Version 1.3795

1 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 1.304

1 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