GPC3

PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
R-numbers: R144
Signed-off version 2.3
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome, type 1 312870, Polydactyly
R-numbers: R359
Signed-off version 2.5
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