Deafness_IsolatedAndComplex
Gene: DFNA5
Comment when marking as ready: New HGNC approved name is GSDMECreated: 29 Sep 2020, 12:22 a.m. | Last Modified: 29 Sep 2020, 12:22 a.m.
Panel Version: 0.449
Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models.Created: 29 Sep 2020, 12:21 a.m. | Last Modified: 29 Sep 2020, 12:21 a.m.
Panel Version: 0.446
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 5, MIM# 600994
Publications
Gene: dfna5 has been classified as Green List (High Evidence).
Phenotypes for gene: DFNA5 were changed from to Deafness, autosomal dominant 5, MIM# 600994
Publications for gene: DFNA5 were set to
Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag new gene name tag was added to gene: DFNA5.
gene: DFNA5 was added gene: DFNA5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: DFNA5 was set to Unknown