| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 39 612949 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 39,612949, Hypomyelination, global cerebral, Epileptic encephalopathy with global cerebral demyelination, Delayed psychomotor development |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Inherited white matter disorders, Epileptic encephalopathy, early infantile, 39 612949, Hypomyelination, global cerebral, 612949, Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 39 612949 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 39, 612949 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypomyelination, global cerebral |