| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Wilms tumor, somatic, 194070, Simpson-Golabi-Behmel syndrome, type 1, 312870, Wilms tumor, somatic, 194070 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SGBS1 |
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes neonatal hypoglycaemia, distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies, supernumerary nipples, X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome (312870) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Simpson-Golabi-Behmel syndrome, type 1 312870, Polydactyly |