| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815, NEU-LAXOVA SYNDROME 256520 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, NEU-LAXOVA SYNDROME |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Phosphoglycerate dehydrogenase deficiency 601815 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815, NEU-LAXOVA SYNDROME, NLS |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815 |