CAKUT

Gene: GPC3

Green List (high evidence)

GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 12 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)

Green List (high evidence)

Nephromegaly, multicystic kidneys, hydronephrosis, hydroureter, and duplicated ureters are described features of this syndrome.
Sources: Expert list
Created: 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

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gpc3 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GPC3 were set to

16 Jan 2020, Gel status: 0

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