Peroxisomal disorders

Gene: AGPS

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported in four patients, supporting functional and mouse model studies available.
Created: 22 Aug 2016, 9:18 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3 600121
OMIM
603051
Clinvar variants
Variants in AGPS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 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).

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AGPS were set to 11152660; 21990100; 25197626; 24849933

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

AGPS was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

AGPS was added to Peroxisomal disorderspanel. Source: Expert list

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AGPS was created by sleigh

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

AGPS was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN