Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: GPC3

GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities.

Multiple families reported.
Created: 14 Jan 2022, 5:44 a.m. | Last Modified: 14 Jan 2022, 5:44 a.m.

Panel Version: 0.10627

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870

Created: 14 Jan 2022, 5:44 a.m.
Last Modified: 14 Jan 2022, 5:44 a.m.
Panel version: Imported from Mendeliome panel version 0.10627

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Expert Review Green

OMIM

300037

Clinvar variants

Variants in GPC3

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPC3 was added gene: GPC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPC3 was set to Unknown

Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Gene: GPC3