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  2. Skeletal Dysplasia_Fetal
  3. GPC6
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Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe congenital micromelia
Sources: Literature
Created: 4 Nov 2022, 6:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Omodysplasia 1 - MIM#258315

Created: 4 Nov 2022, 6:11 a.m.

Panel version: 0.173

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Omodysplasia 1 - MIM#258315
OMIM
604404
Clinvar variants
Variants in GPC6
Penetrance
None
Panels with this gene

History Filter Activity

10 Nov 2022, 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).

10 Nov 2022, 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).

4 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: GPC6 was added gene: GPC6 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia 1 - MIM#258315 Review for gene: GPC6 was set to GREEN