This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
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, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 3 600121
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 3 600121
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Likely inborn error of metabolism
- Peroxisomal disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Chondrodysplasia punctata
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: AGPS was added gene: AGPS was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121