| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Coffin-Lowry syndrome, OMIM:303600 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Coffin-Lowry syndrome, OMIM:303600 |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Coffin-Lowry syndrome, OMIM:303600 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Coffin-Lowry syndrome, OMIM:303600, Intellectual developmental disorder, X-linked 19, OMIM:300844 |