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  3. AGPS
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Skeletal Dysplasia_Fetal

Gene: AGPS

Green List (high evidence)
AGPS (alkylglycerone phosphate synthase)
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene cause a skeletal dysplasia, including congenital contractures.
Created: 23 Nov 2019, 3:04 a.m. | Last Modified: 1 Nov 2021, 6:45 a.m.
Panel Version: 0.87

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata, type 3, MIM#600121

Created: 23 Nov 2019, 3:04 a.m.
Last Modified: 1 Nov 2021, 6:45 a.m.
Panel version: Imported from Fetal anomalies panel version 0.87

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
OMIM
603051
Clinvar variants
Variants in AGPS
Penetrance
None
Panels with this gene

History Filter Activity

16 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121

16 Sep 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGPS was added gene: AGPS was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGPS was set to Unknown