Deafness_IsolatedAndComplex
Gene: DIAPH3
Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.Created: 2 Jan 2020, 4 a.m. | Last Modified: 2 Jan 2020, 4 a.m.
Panel Version: 0.192
Single family reported, note variant is (-172G-A) in the 5-prime untranslated region. Mouse model is homozygous lethal, though transgenic mouse model supports pathogenicity.Created: 31 Dec 2019, 12:34 a.m. | Last Modified: 31 Dec 2019, 12:34 a.m.
Panel Version: 0.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Auditory neuropathy, autosomal dominant, 1, MIM#609129
Publications
Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Publications for gene: DIAPH3 were set to 23441200; 20624953
Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Gene: diaph3 has been classified as Red List (Low Evidence).
Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Publications for gene: DIAPH3 were set to
Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: diaph3 has been classified as Red List (Low Evidence).
gene: DIAPH3 was added gene: DIAPH3 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: DIAPH3 was set to Unknown