Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
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, 35, 616647 |
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, 35, 616647 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Inosine triphosphatase deficiency (Disorders of purine metabolism), Epileptic encephalopathy, early infantile, 35, 616647, [Inosine triphosphatase deficiency], 613850 |