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Skeletal dysplasia

Gene: AGPS

Green List (high evidence)

AGPS (alkylglycerone phosphate synthase)
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 15 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

disproportionately short stature primarily affecting the proximal parts of the extremities, Chondrodysplasia punctata gp of SD. Green - greater than 3 cases reported; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata, type 3 600121

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: AGPS; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 13 Jul 2016, 7:32 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 15 Jun 2016, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata, type 3 600121

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
  • Rhizomelic chondrodysplasia punctata, type 3 600121
OMIM
603051
Clinvar variants
Variants in AGPS
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 for gene: AGPS

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to AGPS. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AGPS were set to Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121

11 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

AGPS was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory

18 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

AGPS was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen AGPS was added to Unexplained skeletal dysplasiapanel. Source: UKGTN AGPS was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

AGPS was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AGPS was created by sleigh