Panel | Mode of inheritance | Details |
---|---|---|
5 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 3-methylglutaconic aciduria, type IX, 617698, intellectual disability and seizure, epilepsy and developmental delay, epileptic encephalopathy |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type IX, 617698 |
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 3-methylglutaconic aciduria, type IX 617698 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type IX 617698 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type IX, 617698 |