Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Amelogenesis imperfectaR-numbers: R340 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes 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 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Amelogenesis imperfecta, type IV 104510, Trichodontoosseous syndrome 190320 |