| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Deafness_IsolatedAndComplex v0.389 | SLC19A2 | Zornitza Stark Marked gene: SLC19A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.389 | SLC19A2 | Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.389 | SLC19A2 | Zornitza Stark Classified gene: SLC19A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.389 | SLC19A2 | Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.388 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to 10391221; 10978358 Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Review for gene: SLC19A2 was set to GREEN Added comment: Over 5 unrelated families reported, sensorineural deafness is part of the phenotype. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||