CAKUT
Gene: GPC3EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by expert reviewer. Based on the review and literature there is enough evidence to support a gene-disease association. Therefore, this gene has been given Green status.Created: 11 May 2020, 12:57 p.m. | Last Modified: 11 May 2020, 12:57 p.m.
Panel Version: 1.106
Zornitza Stark (Australian Genomics)
Nephromegaly, multicystic kidneys, hydronephrosis, hydroureter, and duplicated ureters are described features of this syndrome.
Sources: Expert listCreated: 16 Jan 2020, 4:01 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome, type 1 312870
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Simpson-Golabi-Behmel syndrome, type 1 312870
- OMIM
- 300037
- Clinvar variants
- Variants in GPC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours
- Limb disorders
- DDG2P
- Intellectual disability
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gpc3 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GPC3 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: GPC3 was added gene: GPC3 was added to CAKUT. Sources: Expert list 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 Simpson-Golabi-Behmel syndrome, type 1 312870 Review for gene: GPC3 was set to GREEN gene: GPC3 was marked as current diagnostic