| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebral creatine deficiency syndrome 2, 612736, Seizures, Deficiency of guanidinoacetate methyltransferase, GAMT deficiency |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebral creatine deficiency syndrome 2 612736 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebral creatine deficiency syndrome 2, 612736, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY) |