Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720, developmental and epileptic encephalopathy, 7, MONDO:0013387, Myokymia, OMIM:121200, Seizures, benign neonatal, 1, OMIM:121200, seizures, benign familial neonatal, 1, MONDO:0007365 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720, BENIGN NEONATAL EPILEPSY TYPE 1 121200 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720, Seizures, benign neonatal, 1, OMIM:121200 |
R-numbers: R54 Signed-off version 6.7 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Early infantile encephalopathy 7, 613720, Myokymia, 121200 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720 |
R-numbers: R66 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720 |