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  3. GPC4
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Fetal anomalies

Gene: GPC4

Amber List (moderate evidence)
GPC4 (glypican 4)
EnsemblGeneIds (GRCh38): ENSG00000076716
EnsemblGeneIds (GRCh37): ENSG00000076716
OMIM: 300168, Gene2Phenotype
GPC4 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Pathogenic variant seen in R14 case presenting with intellectual disability and metopic synostosis. Macrocephaly and frontal bossing but no antenatal reports, metopic synostosis is common and maybe incidental.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

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

Phenotypes
Keipert syndrome, MIM#301026

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Keipert syndrome, OMIM:301026
OMIM
300168
Clinvar variants
Variants in GPC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GPC4 was added gene: GPC4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPC4 were set to 9001804; 21567928; 30982611; 17726694; 12605449; 4708024; 18541962 Phenotypes for gene: GPC4 were set to Keipert syndrome, OMIM:301026