Peroxisomal disorders
Gene: AGPS
AGPS (alkylglycerone phosphate synthase)
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 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
-
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Bilateral congenital or childhood onset cataracts
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
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