Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EPILEPTIC ENCEPHALOPATHY |
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 EPILEPTIC ENCEPHALOPATHY, Epileptic encephalopathy, early infantile, 17 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EPILEPTIC ENCEPHALOPATHY |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes EPILEPTIC ENCEPHALOPATHY, Neurodevelopmental disorder with involuntary movements, 617493, Epileptic encephalopathy, early infantile, 17, 615473 |