Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes L-2-hydroxyglutaric aciduria, 236792 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes L-2-HYDROXYGLUTARIC ACIDURIA 236792 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes L-2-HYDROXYGLUTARIC ACIDURIA |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes L-2-hydroxyglutaric aciduria, 236792, L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA) |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes L-2-hydroxyglutaric aciduria, 236792 |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes L-2-hydroxyglutaric aciduria, 236792 |