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Prepair 1000+

Gene: GPC6

Green List (high evidence)

GPC6 (glypican 6)
EnsemblGeneIds (GRCh38): ENSG00000183098
EnsemblGeneIds (GRCh37): ENSG00000183098
OMIM: 604404, Gene2Phenotype
GPC6 is in 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Pathogenic variants lead to absence of functional protein. Skeletal dysplasia with severe congenital micromelia, shortening and distal tapering of the humeri and femora to give a club-like appearance. Associated facial features also apparent. Can involve congenital heart defects and cognitive delay in some affected individuals. Onset is within early childhood and severe.
Recent study described a milder phenotype in family with homozygous missense variants - functional protein still reported to be produced (PMID:37353964).

Intragenic CNVs have been reported for this gene.
Created: 4 Sep 2024, 6 a.m. | Last Modified: 4 Sep 2024, 6 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omodysplasia 1 MIM#258315

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Omodysplasia 1, 258315 (3)
OMIM
604404
Clinvar variants
Variants in GPC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: gpc6 has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GPC6 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPC6 was added gene: GPC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)