Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Early-onset epileptic encephalopathy (EOEE), EE, Seizures |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Global developmental delay, Intellectual disability, Seizures |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 |
R-numbers: R257 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 |