Wilms Tumour
Gene: GPC3EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 21 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert ReviewCreated: 26 Sep 2024, 12:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wilms tumor, MONDO:0006058; Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602; Simpson-Golabi-Behmel syndrome, type 1, MIM#312870
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602
- Simpson-Golabi-Behmel syndrome, type 1, MIM#312870
- OMIM
- 300037
- Clinvar variants
- Variants in GPC3
- Penetrance
- None
- Panels with this gene
-
- Overgrowth
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Hyperinsulinism
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Cancer Predisposition_Paediatric
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Congenital diaphragmatic hernia
- Prepair 500+
- Callosome
- Wilms Tumour
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpc3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: gpc3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: GPC3 was added gene: GPC3 was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Wilms tumor, MONDO:0006058; Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602; Simpson-Golabi-Behmel syndrome, type 1, MIM#312870 Review for gene: GPC3 was set to GREEN