Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Added comment: Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.192 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to 23441200; 20624953
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.191 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.49 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129
Deafness_IsolatedAndComplex v0.48 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to
Deafness_IsolatedAndComplex v0.47 DIAPH3 Zornitza Stark Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.46 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.45 DIAPH3 Zornitza Stark reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.0 DIAPH3 Zornitza Stark 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