Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NONSPECIFIC SEVERE ID, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968, INFANTILE EPILEPTIC ENCEPHALOPATHY |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epileptic encephalopathy, early infantile, 11 613721, Seizures, benign familial infantile, 3 607745 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721, NONSPECIFIC SEVERE ID |
Green in Recurrent episodic apnoeaR-numbers: R434 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Seizures, benign familial infantile, 3, OMIM:607745, seizures, benign familial infantile, 3 MONDO:0011904 |