Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Severe Infantile-Onset Encephalopathy |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Early infantile epileptic encephalopathy 44, 617132, Autosomal recessive spinocerebellar ataxia 24, 617133 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 44, 617132, Intellectual disability |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 |