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Intellectual disability

Gene: GPC4

No list

GPC4 (glypican 4)
EnsemblGeneIds (GRCh38): ENSG00000076716
EnsemblGeneIds (GRCh37): ENSG00000076716
OMIM: 300168, Gene2Phenotype
GPC4 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

10 individuals from 6 families reported, functional studies in mice. Mild to moderate ID part of the phenotype.
Sources: Expert list
Created: 6 Feb 2020, 8:43 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Keipert syndrome OMIM# 301026

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
Phenotypes
  • Keipert syndrome OMIM# 301026
OMIM
300168
Clinvar variants
Variants in GPC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GPC4 was added gene: GPC4 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPC4 were set to 30982611 Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026 Review for gene: GPC4 was set to GREEN gene: GPC4 was marked as current diagnostic