Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Deafness_IsolatedAndComplex v1.236 MIA3 Zornitza Stark Classified gene: MIA3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.236 MIA3 Zornitza Stark Gene: mia3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.235 MIA3 Zornitza Stark Marked gene: MIA3 as ready
Deafness_IsolatedAndComplex v1.235 MIA3 Zornitza Stark Gene: mia3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.235 MIA3 Zornitza Stark gene: MIA3 was added
gene: MIA3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 33778321; 40948380; 40119123
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to GREEN
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Three unrelated families reported, including four affected siblings. Mouse model has absence of bone mineralization.
Sources: Literature