Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epilepsy and intellectual disability |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epileptic encephalopathy, early infantile, 58 (MIM 617830), Obesity, hyperphagia, and developmental delay (MIM 613886) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epileptic encephalopathy, early infantile, 58, 617830, Obesity, hyperphagia, and developmental delay, 613886 |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Obesity, hyperphagia, and developmental delay, OMIM:613886 |