Bilateral congenital or childhood onset cataracts
Gene: AGPSEnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Publications
- de Vet et al (1998) J. Biol. Chem. 273: 10296-10301
- Itzkovitz et al (2011) Hum Mutat 33:189-197
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 3. This disorder includes cataracts, which is apparent at birth or develop in early infancy (Genetics Home Reference).Created: 28 Apr 2016, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata type 3
- rhizomelic chondrodysplasia punctata type 3 (RCDP3)
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- Complete
- Publications
-
- de Vet et al (1998) J. Biol. Chem. 273: 10296-10301
- Itzkovitz et al (2011) Hum Mutat 33:189-197
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AGPS were set to Rhizomelic chondrodysplasia punctata type 3;rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AGPS were set to de Vet et al (1998) J. Biol. Chem. 273: 10296-10301; Itzkovitz et al (2011) Hum Mutat 33:189-197
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AGPS was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()AGPS was added to Cataractspanel. Sources: UKGTN