Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GPC4

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A variant in GPC4 was identified in an individual with syndromic craniosynostosis. The variant encoding p.Val152fs arose de novo in the mother (PMID:31292255)
Sources: Literature
Created: 22 Jul 2023, 9:44 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 22 Jul 2023, 9:44 a.m.

Panel version: 4.130

Details

Mode of Inheritance

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

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

300168

Clinvar variants

Variants in GPC4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Jul 2023, Gel status: 1

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 Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature 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 31292255; 36980886 Phenotypes for gene: GPC4 were set to craniosynostosis, MONDO:0015469 Review for gene: GPC4 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: GPC4