| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489, OCCIPITAL HORN SYNDROME 304150, MENKES DISEASE 309400 |
Green in Ehlers Danlos syndromesR-numbers: R101 Signed-off version 2.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Menkes disease, 309400, Occipital horn syndrome, 304150, Connective Tissues Disorders, Cutis laxa |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.4 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENKES DISEASE, OCCIPITAL HORN SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Menkes disease 309400 |
R-numbers: R78 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Hereditary Neuropathies |
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 Menkes disease |
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 Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489, OCCIPITAL HORN SYNDROME |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Spinal muscular atrophy, distal, 300489, Menkes disease 309400, Occipital horn syndrome 304150 |