Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Angelman syndrome-like, Epileptic encephalopathy, early infantile, 2 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 (EIEE2) |