Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.33 | DSPP |
Ida Ertmanska changed review comment from: PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025 Lit review of 322 cases with non-syndromic dentinogenesis imperfecta (DI - characterized clinically by amber or gray-yellow opalescent tooth discoloration, obliteration of pulp chambers and root canals, and attrition. Both deciduous and permanent teeth are affected (PMID: 18456718 Song et al., 2008). DSPP mutations were the most frequent, with with 59 documented variants from 37 publications. 34/59 variants were in exon 5 of DSPP. Sources: Literature; to: PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025 Lit review of 322 cases with non-syndromic dentinogenesis imperfecta (DI - characterized clinically by amber or gray-yellow opalescent tooth discoloration, obliteration of pulp chambers and root canals, and attrition. Both deciduous and permanent teeth are affected (PMID: 18456718 Song et al., 2008)). DSPP mutations were the most frequent, with 59 documented variants from 37 publications. 34/59 variants were in exon 5 of DSPP. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.33 | DSPP | Ida Ertmanska edited their review of gene: DSPP: Changed publications to: 18456718, 39806231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.33 | DSPP | Ida Ertmanska Classified gene: DSPP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.33 | DSPP | Ida Ertmanska Gene: dspp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.32 | DSPP | Ida Ertmanska Publications for gene: DSPP were set to 1845671839806231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.31 | DSPP |
Ida Ertmanska gene: DSPP was added gene: DSPP was added to Amelogenesis imperfecta. Sources: Literature Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DSPP were set to 1845671839806231 Phenotypes for gene: DSPP were set to Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594; Dentin dysplasia, type II, OMIM:125420; Dentinogenesis imperfecta, Shields type II, OMIM:125490; Dentinogenesis imperfecta, Shields type III, OMIM:125500 Review for gene: DSPP was set to GREEN Added comment: PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025 Lit review of 322 cases with non-syndromic dentinogenesis imperfecta (DI - characterized clinically by amber or gray-yellow opalescent tooth discoloration, obliteration of pulp chambers and root canals, and attrition. Both deciduous and permanent teeth are affected (PMID: 18456718 Song et al., 2008). DSPP mutations were the most frequent, with with 59 documented variants from 37 publications. 34/59 variants were in exon 5 of DSPP. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||