| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Amelogenesis imperfecta v1.13 | RELT | Eleanor Williams Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic) to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.9 | RELT | Eleanor Williams Publications for gene: RELT were set to PMID: 30506946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.8 | RELT | Eleanor Williams Classified gene: RELT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.8 | RELT | Eleanor Williams Added comment: Comment on list classification: 3 cases with 3 different variants. Segregation of the variant with the disease. Mouse knockout shows a related phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.8 | RELT | Eleanor Williams Gene: relt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.7 | RELT | Eleanor Williams commented on gene: RELT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.7 | RELT |
Claire Smith gene: RELT was added gene: RELT was added to Amelogenesis imperfecta. Sources: Literature Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RELT were set to PMID: 30506946 Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic) Penetrance for gene: RELT were set to Complete Review for gene: RELT was set to GREEN Added comment: PMID: 30506946 present evidence of three consanguineous Turkish families with irregular hypoplastic amelogenesis imperfecta. The authors also present a Relt-/- mouse model with incisor and molar enamel malformations. RELT should be included as a causative gene in diagnostic panels for AR AI in future. Sources: Literature |
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