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Intellectual disability

Gene: GPC4

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510

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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Keipert syndrome OMIM# 301026
Tags
Skewed X-inactivation
OMIM
300168
Clinvar variants
Variants in GPC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GPC4.

9 Mar 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to GPC4.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GPC4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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