Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277, Febrile seizures, familial, 8 611277, {Epilepsy, childhood absence, susceptibility to, 2} 607681 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Febrile seizures, familial, 8 611277, Epilepsy, generalized, with febrile seizures plus, type 3 611277, {Epilepsy, childhood absence, susceptibility to, 2} 607681 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277, Febrile seizures, familial, 8 611277, {Epilepsy, childhood absence, susceptibility to, 2} 607681 |