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Skeletal dysplasia

Gene: GPC6

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, note multiple intragenic CNVs have been reported for this gene (PMID: 19481194, PMID: 32655339)
Created: 15 Oct 2020, 1:55 a.m. | Last Modified: 15 Oct 2020, 1:55 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omodysplasia 1 MIM#258315

Publications

Created: 15 Oct 2020, 1:55 a.m.
Last Modified: 15 Oct 2020, 1:55 a.m.
Panel version: 0.51

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple intragenic CNVs have been reported for this gene (PMID: 19481194, PMID: 32655339)
Created: 15 Oct 2020, 12:18 a.m. | Last Modified: 15 Oct 2020, 12:18 a.m.
Panel Version: 0.4916

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omodysplasia 1 MIM#258315

Publications

Created: 15 Oct 2020, 12:18 a.m.
Last Modified: 15 Oct 2020, 12:18 a.m.
Panel version: Imported from Mendeliome panel version 0.4916

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 6 unrelated patients/families reported. LoF mechanism, either by point mutations (causing NMD or truncation of important cysteine residues) or larger exon deletions. No missense reported yet.
Created: 13 Oct 2020, 1:15 a.m. | Last Modified: 13 Oct 2020, 1:15 a.m.
Panel Version: 0.4889

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omodysplasia 1 (MIM#258315), AR

Publications

Created: 13 Oct 2020, 1:15 a.m.
Last Modified: 13 Oct 2020, 1:15 a.m.
Panel version: Imported from Mendeliome panel version 0.4889

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Omodysplasia 1 MIM#258315
Tags
SV/CNV
OMIM
604404
Clinvar variants
Variants in GPC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPC6 were changed from Omodysplasia 1 258315 to Omodysplasia 1 MIM#258315

15 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPC6 were set to

15 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: GPC6.

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,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