| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 2.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Cerebral creatine deficiency syndrome 1, 300352 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes X-LINKED CREATINE DEFICIENCY SYNDROME 300352 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Cerebral creatine deficiency syndrome 1 300352 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Intellectual disability, Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Cerebral creatine deficiency syndrome 1, 300352, X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS) |