Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Amelogenesis imperfectaR-numbers: R340 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690, Amelogenesis Imperfecta, Type IG, 204690, Hypomieralised AI |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690 |