Skeletal dysplasia
Gene: AGPSEnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 LesterCreated: 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)
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: greenCreated: 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)
Tier 1Created: 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
-
- Rare genetic inflammatory skin disorders
- Peroxisomal disorders
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic diabetes
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Chondrodysplasia punctata
- Insulin resistance (including lipodystrophy)
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 for gene: AGPS
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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for AGPS were set to Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
Upload gene information
Sarah Leigh (Genomics England Curator)AGPS was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory
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
Added New Source
Sarah Leigh (Genomics England Curator)AGPS was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)AGPS was created by sleigh