Genomics England
GMS Panels
Panels
Genes and Entities

GPC3

glypican 3
OMIM: 300037
PanelMode of inheritanceDetails
8 panels
Green
in Childhood solid tumours
Signed-off version 5.11
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 Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
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 hyperinsulinism
R-numbers: R144
Signed-off version 3.7
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 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870
Green
in Embryonal tumour of possible germline origin
R-numbers: R456
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602, Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
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 disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome, type 1 312870, Polydactyly