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| Amelogenesis imperfecta v2.20 | COL17A1 | Arina Puzriakova Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 (includes enamel pitting); Hypoplastic amelogenesis imperfecta | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v2.13 | PEX26 | Eleanor Williams Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873; Heimler syndrome; Amelogenesis imperfecta; enamel dysplasia to Amelogenesis Imperfecta, MONDO:0019507; Heimler syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v1.14 | DLX3 | Eleanor Williams Phenotypes for gene: DLX3 were changed from Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair to Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510; Amelogenesis Imperfecta, Dominant; amelogenesis imperfecta with taurodontism; Trichodontoosseous syndrome, 190320; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); hypoplastic AI, taurodontism and kinky hair; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Amelogenesis imperfecta | ENAM | Rebecca Foulger marked ENAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | ENAM | Rebecca Foulger classified ENAM as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | ENAM | Claire Smith reviewed ENAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | ENAM | Rebecca Foulger commented on ENAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||