Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dystonia, Glutaricaciduria, type I, 231670 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GLUTARICACIDEMIA TYPE 1 231670 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GLUTARICACIDEMIA TYPE 1 |
Green in Glutaric acidaemia IR-numbers: R275 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GLUTARICACIDEMIA TYPE 1 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glutaricaciduria, type I, 231670 |