Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactokinase deficiency with cataracts, 230200, Galactokinase deficiency with cataracts, galactosemia II |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALACTOSEMIA II 230200 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALACTOSEMIA II |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galactokinase deficiency with cataracts, 230200 |