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Intellectual disability

Gene: GPC4

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - more than 3 unrelated cases presenting the relevant phenotype.
Created: 24 Jul 2020, 12:01 p.m. | Last Modified: 24 Jul 2020, 12:01 p.m.
Panel Version: 3.190
Associated with phenotype in OMIM and a confirmed gene for Keipert syndrome in G2P.

Amor et al. (2019) (PMID: 30982611) reported ten affected males from six familes, each harbouring distinct GPC4 variants. All identified variants were truncating or resulted in a frameshift, suggesting loss of function as the likely disease mechanism. Variable degrees of ID (mild-moderate) were reported in 8/10 participants. Some supporting functional data.
Created: 24 Jul 2020, 11:08 a.m. | Last Modified: 24 Jul 2020, 11:59 a.m.
Panel Version: 3.189

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

Phenotypes
Keipert syndrome, 301026

Publications

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, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Keipert syndrome OMIM# 301026
Tags
for-review Skewed X-inactivation
OMIM
300168
Clinvar variants
Variants in GPC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: GPC4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gpc4 has been classified as Amber List (Moderate Evidence).

24 Jul 2020, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: GPC4. Tag Skewed X-inactivation tag was added to gene: GPC4.

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